Syndromes in Ophthalmology

A syndrome is a recognizable complex of symptoms and physical findings that indicate a specific condition for which a direct cause is not necessarily understood. While medicine has innumerable syndromes, a similar scenario exists in ophthalmology too. It is crucial for a clinically astute ophthalmologist to be aware of these syndromes to initiate necessary workup for more sinister lesions associated with certain ocular findings. This article aims at addressing various syndromes related to ophthalmology highlighting the ocular findings.

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

A

Aarskog’s syndrome:

Ocular symptoms include megalocornea, hypertelorism, antimongoloid palpebral fissures. Systemic features are short stature, syndactyly.

Aberfeld Syndrome

Ocular features include blepharophimosis, exotropia, myopia, congenital cataracts, microcornea. Systemic features are myopathy, bone deformities, arachnodactyly, dwarfism, hypoplastic facial bones, hypertrichosis, kyphoscoliosis.

Achard Syndrome

Ocular features include myopia, lens dislocation, spherophakia. Various systemic features include mandibulofacial dysostosis, skeletal anomalies, arachnodactyly, high-arched palate, and heart disease.

Achoo Syndrome

Ocular features include photic sneeze reflex by sudden exposure of dark-adapted subject to bright light. Systemic features include successive sneezing.

ACL Syndrome

Ocular features include bilateral corneal leukoma, keratitis. Systemic features are Unusually tall, large hands, feet and chin, skin of hands very soft, skin of scalp lies in folds, frontal bosses, ear calcification, pituitary tumors, abnormal dermal ridge patterns, enlargement of supraorbital arch of frontal bone.

Acosta Syndrome

Ocular features include acute blurred vision, difficulties in color discrimination, impaired light adaptation, retinal hemorrhage, chronic lid edema, bluish scleral injection, and decreased visual acuity. Systemic features are restlessness and irritability, headaches, impaired judgment at approximately 15,000 feet, confusion, cyanosis, muscular incoordination and possible loss of consciousness at approximately 18,000–20,000 feet, exertional dyspnea, epistaxis, gum bleeding, hemoptysis, anorexia, nausea, vomiting, tinnitus, cough, loss of libido, paresthesia extremities, coma, clubbing of fingers and hepatosplenomegaly.

Acroreno-ocular Syndrome:

Ocular features include Complete coloboma, coloboma of optic nerve, ptosis and Duane anomaly. Systemic features are renal anomalies, hypoplasia of distal part of thumb with lack of motion at phalangeal joint, renal ectopia without fusion, bladder diverticula, malrotation of both kidneys, absence of kidney, clubhand or absence of thumb.

Aicardi’s Syndrome

Ocular features include chorioretinal lacunar defects & colobomata. Systemic features are corpus callosal agenesis and other CNS abnormalities, infantile spasms, mental retardation, vertebral and rib malformations

Alagille’s Syndrome

Ocular features are posterior embryotoxon, optic disc drusen, pale fundi, hypertelorism. Systemic features are intrahepatic bile duct hypoplasia, butterfly vertebrae, congenital heart disease.

Albers-Schonberg Disease

Ocular features are oculomotor paralysis, cranial nerve VII (facial) palsy, optic atrophy, ptosis, exophthalmos, papilledema, nystagmus, anisocoria, congenital cataracts, hypertelorism, visual loss in infancy, nasolacrimal duct obstruction, keratoconus. Systemic features are cartilage and bone thickening, multiple fractures, hyperchromic anemia, osteomyelitis, severe forms: jaundice, hepatosplenomegaly, skeleton sclerosis, lymphadenopathy and hydrocephalus in infants, mild forms: nerve compression, fractures and milder form of anemia, pancytopenia from marrow obliteration, low serum calcium & elevated phosphorus.

Albright syndrome

Ocular features are orbital involvement may cause proptosis, sinus mucoceles, and compressive optic neuropathy. Systemic features are polyostotic fibrous dysplasia (of bone), endocrine abnormalities (including precocious puberty), and cafe-au-lait spots.

Allgrove Syndrome

Ocular features are distichiasis, conjuncitivitis, keratitis, congenital alacrima. Systemic features are Adrenocorticotropic hormone (ACTH) insensitivity, achalasia.

Alport syndrome

Ocular features are anterior lenticonus, anterior polar and cortical cataracts, fleck retina. Systemic features are sensorineural deafness, nephritis.

Alstrom-Olsen syndrome

Ocular features are cone-rod dystrophy with features of retinitis pigmentosa, posterior subcapsular cataracts. Systemic features include diabetes mellitus, sensorineural deafness, nephropathy, obesity, acanthosis nigricans.

Amendola Syndrome:

Blisters around eyebrows, entropion, ectropion, trichiasis, iritis. Systemic features are fevers and chills.

Andersen-Warburg Syndrome

( Norrie Disease, Oligophrenia Microphthalmos Syndrome, Whitnall-Norman Syndrome) Ocular features are bilateral microphthalmos with extensive destruction of all ocular structures often resembling a pseudotumor, blindness at birth, iris atrophy, iritis, corneal opacification and lenticular destruction with a mass visible behind the lens as long as the lens is still clear, malformed retina and choroid with retinal pseudotumors, retinal detachment, retrolental vascular mass. Systemic features are mental retardation ranging from imbecility to idiocy (may begin at any age) in about two-thirds of cases, deafness of differing severity.

Andogsky Syndrome

Ocular features are atopic keratoconjunctivitis, keratoconus, uveitis, dense subcapsular cataract developing to a complete dense opacification. Systemic features are erythematous thickening of the skin with papular hyperpigmented and scaly changes, most frequently found in regions of the wrist, popliteal fossa, neck and sometimes forehead.

Angelucci Syndrome (Critical Allergic Conjunctivitis Syndrome):

Ocular features include chemosis, conjunctivitis (papillary type), severe itching and burning, photophobia. Systemic features include tachycardia, vasomotor lability, excitability, allergies (asthma, urticaria, edema), dystrophic conditions and endocrine disorders are frequently associated findings.

Ankyloblepharon Filiforme Adnatum And Cleft Palate Syndrome (AEC Syndrome, Hay-Wells Syndrome)

Ocular features are a filiform fusion of eyelids, pterygium, keratoconus. Systemic features include cleft lip and palate, paramedian mucous pits of lower lip, ectodermal dysplasia, infrequent association with trisomy 18, partial-thickness fusion of a central portion of lid margins.

Annette von Droste-Hulshoff Syndrome

Ocular features are myopia, retinal detachment, negative and positive angle kappa, esotropia, temporal macular ectopia, chorioretinal colobomata, falciform folds, persistent hyaloids artery, abnormal position of the blind spot, epicanthus, telecanthus, blepharophimosis, hypertelorism, asymmetrical orbits, exophthalmos, enophthalmos. Systemic features include face turn, angioma, neoplasia.

Anoxic Overwear Syndrome

Ocular features include refractive error changes, endothelial cell changes, physical trauma to the anterior surface of the cornea, corneal neovascularization, giant papillary conjunctivitis, contact lens deposits, acute red eye syndrome.

Apert Syndrome.

Various ocular features found are hypertelorism, proptosis, strabismus, keratoconus, ectopia lentis, congenital glaucoma, optic atrophy. Systemic features include craniosynostosis, syndactyly, broad distal phalanx of great thumb/toe, mental handicap.

Anterior Chamber Cleavage Syndrome (Peters-Plus Syndrome, Reese-Ellsworth Syndrome)

Ocular features include increased intraocular pressure, adhesions between the iris and cornea, persistence of mesenchymal tissue in the chamber angle, usually shallow anterior chamber, iris coloboma and hypoplasia, prominent Schwalbe ring, contiguous hyaloid membrane, corneal opacities of various density with or without edema, usually at the site of iris adhesion, anterior pole cataract, remains of hyaloid artery. Systemic features include dental anomalies, mental retardation, cleft palate, syndactyly, craniofacial dysostosis, myotonic dystrophy.

Anton Syndrome (Denial-Visual Hallucination Syndrome):

Ocular features include denial of blindness, patients may persistently deny having any loss of visual perception, the objects the patient describes and claims to see are regarded as visual hallucinations, visual field hemianopsia. Systemic features include confabulation, allocheiria (reference of a sensation is made to the opposite side to which the stimulus is applied).

Arnold–Chiari malformation

Systemic features include Congenital herniation of the cerebellum/ brainstem through the foramen magnum may cause hydrocephalus, cerebellar signs (e.g., ataxia) and may be associated with syringomyelia. Ocular feature is nystagmus.

Arndt-Gottron Syndrome (Scleromyxedema):

Ocular features include corneal opacities of amyloid deposits, thickening of eyelids, lagophthalmos, ectropion, thickened eyebrow or eyelid skin, corneal opacities. Systemic features include exaggerated facial folds impair opening of the mouth, flexion contractures from poor joint mobility, erythema, scaling of skin, phimosis, urethral stenosis.

Arylsulfatase A Deficiency (Greenfield Disease, Scholz Syndrome, Scholz-Bielschowsky-Henneberg Syndrome,Sulfatide Lipoidosis Syndrome, Van Bogaert-Nyssen Disease, Van Bogaert-Nyssen-Peiffer Disease):

Ocular features are Visual loss in association with optic atrophy, strabismus, macular cherry-red spot, corneal opacification, oculomotor disorders (nystagmus, strabismus), optic nerve and retinal demyelination. Systemic features include motor and mental deterioration with spasticity, paralysis, seizures, dementia, death in early childhood, although attenuated and adult forms of the disease occur, schizophrenia, temporooccipital demyelination, unreactive to visual and auditory stimuli, adult form: moodiness, withdrawal, megalomania, hallucinations, violent reactions and dementia.

Autoimmunologically Mediated Syndrome

Ocular features include dacryoadenitis.

Axenfeld-Rieger Syndrome (Axenfeld Syndrome)

Ocular features include posterior embryotoxon: ring-like opacity of cornea, long trabecula, prominent Schwalbe line, iris adhesions to Schwalbe line and cornea with large abnormal iris processes or broad sheets of tissues of varying size and location, anterior layer of iris may appear hypoplastic, ectopia of the pupil not uncommon, polycoria occurs, ring like opacity of the deep corneal layers extending several millimeters from the limbus in continuity with the sclera, keratoconus.

Axenfeld-Schürenberg Syndrome (Cyclic Oculomotor Paralysis)

Ocular features include cyclic oculomotor paralysis (paralysis alternating with spasm), during periods of paralysis, lid exhibits ptosis and affected eye is abducted, during spasm, lid is raised, deviation of affected eye is either inward or outward, and pupil is fixed and contracted.

B

Balint Syndrome (Psychic Paralysis Of Visual Fixation Syndrome)

Ocular features include psychic paralysis of visual fixation, lack of full voluntary control of eye movements, unstable visual fixation. Systemic features include tonic and motor phenomena of upper limbs, loss of body coordination (bilateral), optic ataxia, it has been reported to occur in association

Baraitser-Winter Syndrome

Ocular features include ptosis, hypertelorism, down-slanting palpebral fissures. May be confused with Noonan syndrome, phenotypic features appear to be variable.

Barrier Deprivation Syndrome (Binkhorst Membrane Deprivation Syndrome, Worst Decompartmentalization Of Eye Syndrome)

Various ocular features found are cystoid macular edema, corneal endothelial dystrophy, retinal detachment, leakage in peripheral retina and macula, iris pigment loss, uveitis, vitreous in anterior chamber, retinal holes, band keratopathy, glaucoma, iritis.

Basedow Syndrome (Exophthalmic Goiter, Graves’ Disease, Hyperthyroidism, Parry Disease, Thyrotoxicosis)

Ocular features include exophthalmos, swelling of eyelids and discoloration of upper eyelids, lid lag (von Graefe), globe lag (Koeber), lid trembling on gentle closure (Rosenbach sign), reduced blinking (Stellwag), retraction of upper lid, difficulty in everting upper lid (Gifford sign), convergence weakness (Möbius), impaired fixation on extreme lateral gaze (Suker), possible external ophthalmoplegia (Ballet), Dalrymple sign (staring appearance), tearing, photophobia, epiphora, prolapse of lacrimal gland, neuroretinal edema, tortuous vessels, papilledema and papillitis, anisocoria, keratitis, increased intraocular pressure, increased intraocular pressure on upgaze, decreased visual acuity, enlargement of the extraocular muscles, increased volume of the extraorbital fat, superior rectus muscle enlargement, decreased venous outflow. Systemic features include tachycardia, anxiety, insomnia, loss of weight, hyperhidrosis, restlessness, myocarditis (toxic), atrial fibrillation.

Bardet–Biedl And Laurence–Moon Syndromes

Ocular features include retinitis pigmentosa with early macular involvement, polydactyly, hypogonadism, obesity, microcephaly, nephropathy,

Bassen–Kornzweig Syndrome (Abetalipoproteinaemia).

Ocular features are retinitis pigmentosa, cataract, spinocerebellar degeneration, steatorrhoea, acanthosis (of erythrocytes).

Batten-Mayou Syndrome (Batten Disease, Vogt-Spielmeyer Syndrome)

Ocular features include vision initially reduced, progressing to total blindness, fat deposition in the retina with gradual development of pigment disturbances resembling retinitis pigmentosa, progressive primary optic atrophy, granular pigmentary change of macula, there is clinical evidence supporting the idea that the primary lesion of the retina is in the inner layers. Systemic features include mental disturbances, convulsions (later), apathy, irritability, ataxia, upper and lower motor neuron palsies, rigidity, complete paralysis and dementia in terminal stage, hypertonus, death from intercurrent infection.

BBB Syndrome (Hypertelorism-Hypospadias Syndrome, Opitz Syndrome)

Ocular features include epicanthal folds, strabismus, blepharophimosis, telecanthus, widely spaced eyebrows. Systemic features are high nasal bridge, hypospadias, cryptorchidism, cleft palate and lip, urinary malformations, mental retardation, osteochondritis dissecans, congenital heart defects, upper urinary tract anomalies.

Behçet Syndrome (Dermato-Stomato-Ophthalmic Syndrome, Gilbert Syndrome, Oculobuccogenital Syndrome)

Ocular features include muscle palsies (occasional), nystagmus (occasional), conjunctivitis, hypopyon, iritis, recurrent uveitis, keratoconjunctivitis sicca, keratitis, vitreous hemorrhages, thrombophlebitis retinal veins (occasional), retinal hemorrhages, optic neuritis (occasional), macular edema, optic nerve atrophy, retinitis, secondary glaucoma, retinal vasculitis, disk edema, panophthalmitis, optic neuropathy, skin lesions, posterior uveitis, and systemic complications have been associated with loss of vision with this disorder, corneal immune ring opacity. Systemic features are aphthous lesions of mucous membranes of the mouth and genitalia, cerebellar signs, convulsions, paraplegia, skin erythema (multiforme, bullosum), arthritis, urethritis, glossitis, recurrent fever.

Behr Syndrome (Optic Atrophy Ataxia Syndrome)

Ocular features are Nystagmus, central scotoma, severe progressive temporal atrophy of the optic nerve, bilateral retrobulbar neuritis, horizontal nystagmus. Systemic features include Pyramidal tract signs (increased tendon reflexes and positive Babinski sign), ataxia and disturbance of coordination, mental deficiency, vesical sphincter muscle weakness, muscular hypertonia, clubfoot, progressive spastic paraplegia, dysarthria, head nodding.

Benson Disease (Asteroid Bodies Of The Vitreous, Asteroid Hyalitis, Scintillatio Albescens, Snowball Opacities Of The Vitreous)

Ocular features include small, solid, stellate, spherical bodies in an otherwise normal vitreous, creamy, flat white, or shiny when viewed with an ophthalmoscope, may interfere with accurate measurement of axial length. Systemic features are the increased prevalence of diabetes mellitus, hypertension, atherosclerosis, and hyperopia.

Blepharophimosis Syndrome (Simosa Syndrome)

Ocular features are scarred or contracted in secondary blepharophimosis because of ocular pemphigus or trachoma, ectropion, epicanthus inversus, lacrimal puncta displacement, ptosis, telecanthus, optic nerve coloboma, angle dysgenesis, optic nerve hypoplasia, amblyopia, strabismus. Systemic features include low-set ears, low nasal bridge.

Blocked Nystagmus Syndrome (Nystagmus Blockage Syndrome, Nystagmus Compensation Syndrome)

Ocular features are bilateral or monocular convergence where the adducted eye(s) cannot be abducted to the midline, if monocular, it may alternate, esotropia increases with prolonged fixation, head turn, nystagmus.

Bogorad Syndrome (Crocodile Tear Syndrome, Paroxysmal Lacrimation Syndrome)

Ocular features include unilateral lacrimation while eating or drinking due to misdirected nerve fiber regeneration. Systemic features include excessive salivation (occasionally), diffuse facial muscle response, or facial contracture with lacrimation.

Bloch–Sulzberger Syndrome (Incontinentia Pigmenti)

Ocular features are abnormal peripheral retinal vasculature, gliosis, tractional retinal detachment. Systemic features are abnormal teeth, cutaneous pigment whorls, and CNS anomalies.

Bourneville Disease (Tuberous Sclerosis)

Ocular features are retinal astrocytomas,

Brown Syndrome

Ocular features include mechanical restriction syndrome attributed to the superior oblique tendon sheath,.

C

Canalis Opticus Syndrome

Ocular features are spontaneous unilateral or bilateral, reversible or irreversible amaurosis, absent pupil reaction in cases of complete blindness, spontaneous visual recovery has been reported anecdotally. Usually associated with blunt head injury.

Canine Tooth Syndrome (Class VII Superior Oblique Palsy)

Ocular features include underaction of the superior oblique and underaction of the inferior oblique on the same side.

Capsular Bag Distension Syndrome

Ocular features include shallow anterior chamber, pupil peaking, accumulation of turbid fluid in the capsular bag.

Capsular Block Syndrome

Complete sealing of the anterior capsule opening by the optic and displacement of the posterior capsule far behind the posterior optic surface.

CAR Syndrome (Cancer-Associated Retinopathy Syndrome)

Ocular features include vision loss usually progressive, retinal degeneration, retinal hole, abnormal visual fields, loss of color vision, retinal detachment, optic atrophy, ring-like scotoma, night blindness, retinal phlebitis. Systemic features are carcinoma with or without metastasis to any part of the body.

Cebocephalia

Ocular features are hypotelorism, mongoloid obliquity. Systemic features are flat, incomplete nose, full cheeks, medial nostril, no palate or cleft lips.

Central Nervous System Deficiency Syndrome (Garland Syndrome, Spillan-Scott Syndrome)

Various ocular features found are greatly reduced vision, particularly near vision, increasing over weeks or months but rarely progressing to complete blindness, relative or absolute central or paracentral scotomata, bitemporal pallor of the disks, optic neuropathy. Systemic features include incomplete bilateral deafness, never proceeding to complete deafness, tinnitus, numbness and tingling in the legs, rarely in the hands, unsteadiness of gait, abnormal tendon reflexes (both hyper active or absent), peripheral neuropathy.

Cerebro-Oculo-Facio-Skeletal Syndrome (COFS Syndrome)

Ocular features are microphthalmia, blepharophimosis, cataracts. Systemic features include microcephaly, hypotonia, prominent nasal root, large ear pinnae, flexion contractures at elbows and knees, camptodactylia, osteoporosis, kyphosis, scoliosis, congenital muscular dystrophy.

Cestan-Chenais Syndrome [Cestan (1) Syndrome]

Ocular features include enophthalmos, ptosis, nystagmus, miosis. Systemic features include pharyngolaryngeal or glossopharyngeal paralysis, cerebellar hemiataxia, disturbance of sensibility, contralateral side of lesion.

CHARGE Association (Atresia, Coloboma, Ear Malformation Association, Genital Hypoplasia, Heart Disease, Multiple Congenital Anomalies Syndrome, Retarded Growth)

Ocular features include blepharoptosis, iris coloboma, optic nerve coloboma, macular hypoplasia, lacrimal canalicular atresia, nasolacrimal duct obstruction. Systemic features are microcephaly, brachycephaly, malformed ear, bilateral finger contractures, heart disease, genital hypoplasia, heart disease, choanal atresia, retarded growth, hearing loss, facial nerve palsies, mental retardation.

Cockayne Syndrome (Dwarfism With Retinal Atrophy And Deafness, Mickey Mouse Syndrome)

Ocular features are enophthalmos, cataracts, pigmentary degeneration of the retina, optic atrophy, band keratopathy, exotropia, nystagmus, absence of foveal reflex, corneal dystrophy, corneal perforation, anhidrosis, exposure keratitis, decreased blinking. Systemic features include dwarfism (nanism) with disproportionately long limbs, large hands and large feet, kyphosis, deformed limbs, thickened skull, intracranial calcifications, mental retardation, prognathism, deafness (often partial), precociously senile appearance, sensitivity to sunlight, with skin pigmentation and scarring, dental caries.

Cogan’s Syndrome

Ocular features include interstitial keratitis reduced vision mainly with the involvement of center of the cornea, very fine wavy lines resembling fingerprints within or very close to corneal epithelium and best seen on biomicroscopy with retroillumination, fine grayish spheres (0.1–0.5 mm diameter) in superficial corneal epithelium, maplike irregular border-lined slightly grayish area. Systemic features are sensorineural deafness, tinnitus, vertigo, systemic vasculitis (including life-threatening aortitis).

Computer User Syndrome

Various ocular features found are ocular pain, asthenopia, excyclotorsion, depression of gaze, ocular synkinesis. Systemic features include hand-wrist pronation, ulnar abduction, headache, fatigue, various types of head and shoulder distress, carpal tunnel syndrome.

Congenital Dyslexia Syndrome (Attention Deficit Disorder, Congenital Word Blindness Congenital Word Blindness Of Hermann, Developmental Dyslexia Of Critchley, Dyslexia Syndrome, Minimal Brain Dysfunction Syndrome, Primary Dyslexia)

Ocular features include abnormal optokinetic nystagmus, metamorphopsia, defective color vision, convergence insufficiency, muscle imbalance, refractive errors, low accommodative converge/ accommodation associated with decreased visual acuity and contrast sensitivity. Systemic features are general clumsiness, disorientation (time-space, right-left), behavioral changes, lack of integration of visual and auditory stimuli.

Congenital Vertical Retraction Syndrome

Ocular features include aberrant regeneration of the oculomotor nerve, concurrent protective eyelid closure, congenital alterations in the extraocular muscle, its insertion, and its peripheral innervation, nystagmus retractorius, surgical or traumatic rearrangement of orbital structures may account for retraction.

Cranio-Oro-Digital Syndrome (Facio-Palato-Osseous Syndrome, FPO, Otopalatodigital Syndrome, Opd Ii Syndrome)

Ocular features include downward-slanting palpebral fissures (antimongoloid obliquity). Systemic features are microcephaly, small mouth, midface hypoplasia, cleft palate, flexed, overlapping fingers with syndactyly of digits 3 and 4, syndactyly of toes 2 and 5, bifid uvula, slight deviation of the terminal phalanges of the third fingers, radial deviation of the terminal phalanx of the right fourth finger, short first toe and long second toe, short first metacarpal, extra bone in the capitate-hamate complex, small thorax, bowed limbs with absent fibula, mild frontal bossing, conductive hearing impairment, flat facies, broad nasal base, wavy irregular clavicles and ribs, widely spaced eyes, prominent forehead.

Criswick-Schepens Syndrome (Familial Exudative Vitreoretinopathy)

Ocular features include posterior vitreous detachment of organized membranes of vitreous, snowflake-like opacities of vitreous, heterotropia of macula, subretinal exudates, retinal detachment, degenerative retinal changes, retinal hemorrhage, retinal folds, enophthalmos, phthisis, intraretinal exudate, vitreous hemorrhage, amblyopia, falciform retinal fold. Systemic features are normal general development, normal birth weight.

Crouzon’s Syndrome

Ocular features include proptosis, strabismus, micro/megalocornea, iris coloboma, cataract, ectopia lentis, glaucoma. Systemic features are craniosynostosis, maxillary hypoplasia, prognathism, hooked nose.

Crowded Disk Syndrome (Bilateral Choroidal Folds And Optic Neuropathy)

Ocular features are bilateral choroidal folds, optic disk congestion, optic atrophy, hyperopia, shortened axial length.

Cryptophthalmia Syndrome (Cryptophthalmos Syndactyly Syndrome, Fraser Syndrome)

Ocular features are microphthalmia, epibulbar dermoid, cryptophthalmos, enophthalmia, eyebrows partially or completely missing, skin from forehead completely covers one or both eyes, but the globes can be palpated beneath the skin, in unilateral cases, the fellow eye may present lid coloboma, buphthalmos, conjunctival sac partially or totally obliterated, absence of trabeculae, Schlemm canal and ciliary muscles, cornea is differentiated from the sclera, lens anomalies from complete absence to hypoplasia, dislocation and calcification. Systemic features are syndactyly (finger, toes) (about 40%), coloboma of alae nasi and nostrils, urogenital abnormalities, including pseudohermaphroditism and renal hypoplasia, abnormal, bizarre hairline, narrow external auditory meatus and malformation of ossicles, cleft lip and palate may occur, atresia or hypoplasia of larynx in some cases, hoarse voice, dysplastic pinna, meatal stenosis, glottic web and subglottic stenosis.

Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome (CHANDS)

Ocular features include congenital ankyloblepharon (fused eyelids). Systemic features are curly hair, hypoplastic nails.

D

De Morsier’s Syndrome

Ocular features include optic nerve hypoplasia, blepharitis, keratoconus, cataracts. Systemic features are midline brain abnormalities including absent septum pellucidum and corpus callosal hypo/ aplasia. Down syndrome Trisomy 21, 1 in 650 live births, , musculoskeletal abnormalities, congenital heart disease,

Dejean Syndrome (Orbital Floor Syndrome)

Ocular features are enophthalmos, exophthalmos, lid hematoma, diplopia due to displacement of the globe or restricted function of the inferior rectus and/or inferior oblique muscles, orbital emphysema. Systemic features include severe pain in superior maxillary region, numbness in area of first and second branches of trigeminal nerve, nausea, and vomiting.

Dental-Ocular-Cutaneous Syndrome

Ocular features are entropion lower eyelids, glaucoma (juvenile type). Systemic features include unusual upper lip with lack of “cupid’s bow” and thickening and widening of the philtrum, syndactyly, cutaneous hyperpigmentation overlying the interphalangeal joints, clinodactyly, single conical roots in all primary teeth and permanent first molars, scant body hair, horizontal ridging of fingernails.

Dialinas-Amalric Syndrome (Amalric-Dialinas Syndrome, Deaf Mutism-Retinal Degeneration Syndrome)

Ocular features are no night blindness but heterochromia iridis, atypical retinitis pigmentosa with small, scattered, fine-pigmented deposits in the macular region with some accumulations and accompanied by small white and yellow spots. Systemic features include deaf mutism.

Diffuse Unilateral Subacute Neuroretinitis Syndrome (DUSN, Unilateral Wipeout Syndrome, Wipeout Syndrome)

Ocular features are vitritis, papillitis, gray-white lesions of the retina, optic atrophy, retinal vessel narrowing, diffuse pigment epithelial degeneration, endophthalmitis, nematode in the fundus, the pathognomonic finding in DUSN is the presence of a motile intraocular nematode. Systemic features include weight loss, lack of appetite, cough, fever, pulmonary infiltration, hepatomegaly, leukocytosis, persistent eosinophilia.

Dollinger-Bielschowsky Syndrome [Bielschowsky-Jansky Disease, Infantile Amaurotic Familial Idiocy (Late), Infantile Ganglioside Lipidosis (Late), Jansky-Bielschowsky Syndrome]

Ocular features are optic nerve atrophy, macular pigmentation. Systemic features are cerebrospinal degeneration, cerebellar ataxia, defective hearing, convulsions, spasticity, contractures, progressive mental deterioration.

Doyne Honeycomb Choroiditis (Dominant Orbruch Membrane Drusen, Holthouse-Batten Superficial Choroiditis, Hutchinson-Tays Central Guttate Choroiditis, Malattia-Leventinese Syndrome)

Ocular features include drusen with multiple yellow lesions becoming calcified and presenting crystalline appearance.

Duane Syndrome

Ocular features include narrowing of palpebral fissure on adduction, widening on abduction, primary global retraction, deficiency of medial and lateral recti motility, limitation of abduction in the affected eye usually is complete, retraction of the globe with attempted adduction varies from 1 to 10 mm, convergence insufficiency, heterochromia irides, left eye is more frequently involved. . Systemic features are associated Klippel-Feil syndrome; malformation of face, ears, and teeth.

Duck-Bill Lips And Ptosis

Ocular features are ptosis, strabismus, hypertelorism. Systemic features are short philtrum, duck-bill lips, low-set ears, a broad forehead, slightly anteverted nose, and flat nasal bridge, slightly wide-spaced teeth and higharched palate, slightly receding chin, slightly wide-set nipples, two phalanges in both fifth fingers, impaired speech.

E

East-West Syndrome

Ocular features include glare, halos, monocular diplopia, irregular pupil microphthalmos, glaucoma, cataracts. Systemic features include edwards’ syndrome Trisomy 18, 1 in 8000 live births, , failure to thrive, congenital heart disease, life expectancy <1 year

Ehlers-Danlos Syndrome (Cutis Hyperelastica, Cutis Laxa, Fibrodysplasia Elastica Generalisata, Indian Rubber Man Syndrome, Meekeren-Ehlers-Danlos Syndrome)

Ocular features include hyperelasticity of palpebral skin, easy eversion of the upper lid, ptosis, epicanthal folds, hypotony of extraocular muscles, strabismus, microcornea, thinning of cornea with keratoconus, thinning of sclera (blue sclera), subluxation of lens, angioid streaks, chorioretinal hemorrhages, retinitis proliferans with secondary detachment, macular degeneration, myopia, ruptured globe after minor trauma, limbus-to-limbus corneal thinning, acute hydrops, cornea plana, keratoglobus. Systemic features are cutaneous manifestations include thin, atrophic, fragile skin, cutaneous hyperelasticity, and pseudomolluscoid tumors, articular manifestations include excessive articular laxity and luxations, hypermobile joints.

Eldridge Syndrome

Ocular features are Myopia, onset between the ages of 4 and 6 years, increased retinal translucency, temporal crescents, mild electroretinographic abnormalities. Severe myopia, Systemic features include sensorineural hearing loss, low intelligence, mild renal disease.

Epithelial Erosion Syndrome (Franceschetti Dystrophy, Kaufman Syndrome, Metaherpetic Keratitis, Post-Traumatic Keratitis)

Ocular features are recurrent erosions of the corneal epithelium, usually seen within weeks or months after herpes simplex infection of the cornea, “loose” epithelium is removed from the underlying Bowman’s membrane mechanically by lid blinking, defects are irregular in shape and stain positively with fluorescein dye, underlying corneal stroma usually shows some edema, pain upon opening eyes in the morning. Systemic features include mild fever, occasionally herpetic skin lesions.

F

Fabry Disease

Ocular features include vortex keratopathy, cataracts (posterior cortical and granular), conjunctival and retinal telangiectasia, Systemic features are peripheral neuropathy with painful Fabry crises, renal failure, angiokeratoma corporis diffusum, lymphedema. x-linked, a-galactosidase a deficiency results in glycosphingolipid accumulation

Facio-Oculo-Acoustico-Renal Syndrome

Ocular features are congenital myopia, undeveloped filtration angle, persistent pupillary remnant membrane, hypertelorism, dysplasia carthonum, antimongoloid obliquity of palpebral fissure. Systemic features include large head, sensorineural hearing loss, proteinuria, epiphyseal dysplasia of the femoral heads.

Fish-Eye Disease (Corneal Opacities-Dyslipoproteinemia)

Ocular features are visual impairment, marked corneal opacities. Systemic features include very-low-density triglycerides and cholesterol raised.

Foix Syndrome (Cavernous Sinus-Nasopharyngeal Tumor Syndrome, Cavernous Sinus Thrombosis, Cavernous Sinus Neuralgia Syndrome, Cavernous Sinus Syndrome, Godtfredsen Syndrome, Hypophyseal-Sphenoidal Syndrome)

Ocular features include proptosis, severe ocular and periorbital pain, lid edema, paresis or paralysis of cranial nerves III, IV, V and VI, corneal anesthesia, optic atrophy. Systemic features are postauricular edema, trigeminal neuralgia, deviation of the tongue toward paralyzed side, patients usually have prominent manifestations of sepsis and paranasal sinus, local skin infections are the most common cause.

Foster Kennedy Syndrome

Ocular features are ipsilateral optic atrophy due to compressive optic neuropathy central scotoma may be present on side of optic atrophy, enlarged blind spot and peripheral contraction of field (opposite eye), homolateral descending optic atrophy due to compression of the ipsilateral optic nerve at the optic foramen, contralateral papilledema due to increased intracranial pressure, ipsilateral proptosis. Systemic features include with contralateral disc swelling from raised ICP. Friedreich’s ataxia Autosomal recessive, triplet repeat expansion (GAA) of noncoding region of the frataxin gene (Ch9), degeneration of spinocerebellar tracts (ataxia, dysarthria, nystagmus), corticospinal tracts (weakness, extensor plantars), posterior columns (proprioception) and peripheral neuropathy (with absent tendon reflexes), pes cavus. Anosmia, headache, dizziness, vomiting, memory loss, psychic changes, also may be caused by an olfactory groove tumor (usually a meningioma) or pituitary adenoma.

Foville Syndrome (Foville Peduncular Syndrome)

Ocular features are paralysis of cranial nerve VI, paralysis of conjugate movement to the side of the lesion, abduction, or horizontal gaze deficit. Systemic features include peripheral facial palsy, contralateral hemiplegia, headache, ipsilateral: facial weakness, loss of taste, facial analgesia, Homer syndrome, and deafness.

Franceschetti Disease (Fundus Flavimaculatus)

Ocular features include an irregular yellowish deposit in and around the macula lutea forming a garland, impaired central vision with intact peripheral retinal function, bilateral retinal dystrophy, progressive subretinal fibrosis, chorioretinal punched-out spots in the posterior pole and midperiphery of the retina.

Franceschetti Syndrome [Berry Syndrome, Berry-Franceschetti-K1ein Syndrome, Bilateral Facial Agenesis, Eyelid-Malar-Mandible Syndrome, Franceschetti-K1ein Syndrome, Franceschetti Syndrome (Ii), Franceschetti-Zwahlen Syndrome, Franceschetti-Zwahlen-K1ein Syndrome, Mandibulofacial Dysostosis, Mandibulofacial Syndrome, Treacher Collins Syndrome, Oculovertebral Syndrome, Treacher Collins-Franceschetti Syndrome, Weyers-Thier Syndrome Zwahlen Syndrome]

Ocular features are microphthalmia, the oblique position of eyes with the lateral downward slope of palpebral fissures, temporal lower lid coloboma, lack of cilia on the middle third of the lower lid, iris coloboma, underdeveloped orbicularis oculi muscle, cataract, optic disk hypoplasia. Systemic features are fish-like face with sunken cheekbones, receding chin, and large, wide-mouth, absent or malformed external ears with auricular appendages, high palate, and possible harelip, hypoplastic zygomatic arch with the absence of normal malar eminences, prolonged hairline on the cheek, deafness, micrognathia, glossoptosis, cleft palate.

Frankl-Hochwart Syndrome (Pineal-Neurologic-Ophthalmic Syndrome)

Ocular features are limitation of upward gaze, concentric field constriction, papilledema, lack of pupillary reaction, nystagmus. Systemic features are bilateral deafness, ataxia, weakness, headache, vomiting, polydipsia, polyphagia, convulsions, facial paralysis, tremor, Romberg sign, hypertonia, tendon hyperreflexia, Babinski sign.

Fuchs-Lyell Syndrome (Debré-Lamy-Lyell Syndrome, Toxic Epidermal Necrolysis)

Ocular features are obstruction of nasolacrimal duct, cicatricial changes in conjunctiva and cornea, conjunctivitis, symblepharon, corneal ulceration and possible perforation. Systemic features include inflammation of mucous membrane with ulcerations, general epidermolysis, cicatricial changes, especially of orifices.

G

Gapo Syndrome (Alopecia, Growth Retardation Optic Atrophy Syndrome, Pseudoanodontia)

Ocular features are progressive optic atrophy, glaucoma, keratoconus. Systemic features include growth retardation, alopecia, pseudoanodontia, frontal bossing, high forehead, midfacial hypoplasia, wide-open anterior fontanelle, retarded bone age, premature aged appearance, hypogonadism, hepatomegaly, muscular body build.

Gardner’s Syndrome

Ocular features are exophthalmos, congenital hypertrophy of retinal pigment epithelium (RPE), multiple lesions of the eye, bilateral occurrence, orbital osteoma, highly pleomorphic pigmentation, unilateral or bilateral retinal lesions, pilomatrixoma-like epidermal cysts, presence of pigmented fundus lesions appears to cluster within families. Systemic features include intestinal polyps, dermoid tumors, neurofibrous osteomatosis, colon cancer, supernumerary teeth.

General Fibrosis Syndrome (Congenital Enophthalmos With Ocular Muscle Fibrosis And Ptosis, Congenital Fibrosis Syndrome, Congenital Fibrosis Of The Inferior Rectus With Ptosis, Strabismus Fixus, Vertical Retraction Syndrome)

Ocular features are ptosis, enophthalmos, disk hypoplasia, astigmatism, esotropia, exotropia, hypotropia, nystagmus, visual loss, positive forced duction test, may be associated with Marcus Gunn jaw-winking and synergistic divergence in attempted right gaze.

Gerstmann’s Syndrome

Ocular features include dominant parietal lobe lesion resulting in finger agnosia, right/left confusion Macular cherry-red spot, corneal clouding, cerebromacular degeneration., Systemic features include dysgraphia, acalculia, may be associated with failure of ipsilateral pursuit movements. Dwarfism, gargoyle facies, mental retardation, seizures, hearing disorder.

Gillespie Syndrome

Systemic features are mental retardation and cerebellar ataxia. Ocular features include congenital cataracts, incomplete formation of iris, bilateral congenital mydriasis

Goldenhar Syndrome (Goldenhar-Gorlin Syndrome, Oculoauriculovertebral Dysplasia)

Ocular features include anophthalmia, colobomata of the choroid, iris and eyelid, antimongolian slant of lid fissure, epibulbar dermoid, or lipodermoids of the conjunctiva, cornea and orbit, tilted optic disk, nerve hypoplasia, microphthalmia, macular heterotopia, tortuous retinal vessels. Systemic features include frontal bulging of the skull, receding chin, malar hypoplasia, micrognathia and macrostomia, auricular appendices (single or multiple), multiple vertebral anomalies, preauricular fistulas, mental retardation.

Goldmann–Favre disease

Systemic features are autosomal recessive, Ocular features are optically empty vitreous, macular retinoschisis, macular changes, peripheral pigmentary retinopathy.

Good Acuity Plus Photosensitivity (Gapp), Track Related Iridiocyclitis And Scleritis (Trisc), Transient Light Sensitivity (Tls)

Ocular features are photophobia, glare, uveitis, iridocyclitis, scleritis associated with refractive surgery and the use of Intralase technology, starts 6–8 weeks postoperatively and resolves by 4–5 months.

Gorlin’s syndrome

Systemic features include multiple basal cell carcinomas, jaw cysts, skeletal abnormalities, ectopic calcification (e.g., falx cerebri), Ocular features include hypertelorism, prominent supraorbital ridges.

Gradenigo’s syndrome

Ocular features include VI nerve palsy and pain in V nerve distribution due to lesion at the apex of the petrous temporal bone, Systemic features include chronic middle ear infection.

Grayson-Wilbrandt Syndrome (Corneal Dystrophy Of Reis-Buecklers, Reis-Buecklers Syndrome)

Ocular features include corneal changes variable from a mottled scarring to gray macular opacities of the anterior limiting membrane of the cornea, strabismus.

Greig Syndrome (Hypertelorism, Hypertelorism Ocularis, Ocular Hypertelorism Syndrome, Primary Embryonic Hypertelorism)

Ocular features are hypertelorism (wide spacing of orbits), enophthalmos, epicanthus, deformities of eyelids and brows, defects of the palpebral fissure, bilateral sixth nerve paralysis, esotropia, astigmatism, optic atrophy by tension on the optic nerve, strabismus. Systemic features are that skull may show mild malformations, including bitemporal eminences and decreased anteroposterior diameter, harelip, high-arched palate, cleft palate, broad and flat nasal root, mental impairment.

Gronblad–Strandberg syndrome

Ocular features are angioid streaks, Systemic features include pseudoxanthoma elasticum.

Gruner-Bertolotti Syndrome

Ocular features include hemianopia, lid retraction, ptosis, extraocular muscle paralysis, papilledema. Systemic features include vertigo, hemiplegia, sensory disturbances, brain tumors.

H

Hallgren Syndrome (Retinitis Pigmentosa-Deafness-Ataxia Syndrome, Usher Syndrome Type I)

Ocular features are horizontal nystagmus (10%), cataract, retinitis pigmentosa, retinal atrophy, narrow retinal vessels, optic atrophy, keratoconus Systemic features include congenital deafness (complete or at least severe auditory impairment), mental deficiency (25%), vestibulo-cerebellar ataxia (90%), schizophrenia-like symptoms (25%).

Hallermann–Streiff–Francois syndrome

Ocular features include micropthalmos, cataract, , blue sclera. Systemic features are hypotrichosis ,dyscephaly, short stature.

Harboyan Syndrome (Congenital Corneal Dystrophy And Sensorineural Hearing Loss, Congenital Hereditary Endothelial, Corneal Dystrophy, Maumenee Syndrome)

Ocular features include bluish-white opacities of cornea with normal sensitivity and no vascularization, nystagmus, keratoconus. Systemic features are sensorineural hearing loss with childhood onset.

Heerfordt’s syndrome:

Ocular features include (uveoparotid fever) uveitis. Systemic features are presentation of sarcoidosis with fever, parotid enlargement.

Hennebert Syndrome (Luetic-Otitic-Nystagmus Syndrome)

Ocular features include spontaneous nystagmus when the column of air in the auditory canal is compressed, interstitial keratitis, disseminated syphilitic chorioretinitis may be present. Systemic features include vertigo, fistula in the labyrinth, deafness, other clinical manifestations of congenital syphilis may be present, such as “saddle” nose and Hutchinson teeth.

Hermansky–Pudlak Syndrome

Ocular features include type II oculocutaneous albinism. Systemic features are platelet dysfunction, pulmonary fibrosis, granulomatous colitis.

Herrick Syndrome (Dresbach Syndrome, Drepanocytic Anemia, Sickle Cell Disease)

Ocular features are secondary glaucoma, telangiectasis of conjunctival vessels, scleral icterus, vitreous hemorrhages, cataract, retinal hemorrhages, exudates and neovascularization, retinitis proliferans, microaneurysms, thrombosis of retinal venules, retinal vascular sheathing, central vein occlusion, angioid streaks, retinopathy with “black sunburst sign” in patients with SS hemoglobin, “sea fan sign” in patients with SC hemoglobin, comma signs of conjunctiva, fan-shaped neovascularization of iris, sector ischemic atrophy of iris, optic atrophy, the white cotton mass of vitreous, retinal holes, color vision defects, central retinal artery obstruction, branch retinal artery obstruction, white without pressure, venous tortuosity, sickling maculopathy. Systemic features include severe anemia with hemolytic crises, bone and joint aches, hemarthrosis, jaundice, hepatosplenomegaly.

Hollenhorst Syndrome (Chorioretinal Infarction Syndrome)

Ocular features include slight proptosis, ecchymosis of lid, marked lid edema, dilated and fixed pupil, hazy cornea, retinal edema, serous retinal detachment, cherry-red spot of the macula, attenuations of retinal arteries, pigmentary retinopathy, optic nerve atrophy, ophthalmoplegia.

Horner Syndrome (Bernard-Horner Syndrome, Cervical Sympathetic Paralysis Syndrome, Claude-Bernard-Horner Syndrome, Horner Oculopupillary Syndrome)

Ocular features include enophthalmos, ptosis or narrowing of palpebral fissure, ocular hypotony, miosis (degree of miosis depends on site of lesion, most pronounced when roots of cranial nerves VII and VIII and first thoracic nerve are involved), hypochromic heterochromia (children more than adults), pupil does not dilate with cocaine. Systemic features are anhidrosis on ipsilateral side of face and neck, transitory rise in facial temperature, hemifacial atrophy, may result from a variety of conditions, including cluster headache, parasellar neoplasms or aneurysms, internal carotid dissection or occlusion, and Tolosa-Hunt syndrome.

Hunt Syndrome (Geniculate Neuralgia, Herpes Zoster Auricularis, Ramsay-Hunt Syndrome)

Ocular features are diminished lacrimation, absence of motor corneal reflex on the affected side, whereas consensual reflex of the noninvolved eye remains normal. Systemic features are herpes zoster lesions of the external ear and oral mucosa, severe pain in the area of external auditory meatus and pinna, diminished hearing, tinnitus, vertigo, facial palsy, diminution or total loss of superficial and deep facial reflexes, zoster lesions may involve the scalp, face, and neck, hoarseness, absence of auricular lesions has been reported, progressive dementia, extensive frontal white matter change, myoclonus, ataxia, facial paralysis, tinnitus, hearing loss, hyperacusis, vertigo, dysgeusia, seizures, cerebellar ataxia, schizophrenia-like symptoms.

Hypomelanosis Of Ito Syndrome (Incontinentia Pigmenti Achromians, Systematized Achromic Nevus)

Ocular features are iridal heterochromia, myopia, esotropia, microphthalmia, hypertelorism, nystagmus, strabismus, corneal opacity, choroidal atrophy, exotropia, small optic nerve, hypopigmentation of the fundus, corneal asymmetry, pannus, atrophic irides with irregular pupillary margins, cataract, retinal detachment. Systemic features are cutaneous manifestations consisting of macular hypopigmented whorls, streaks and patches in a bilateral or unilateral distribution affecting almost any portion of the body surface, 50% have associated noncutaneous abnormalities, including central nervous system dysfunction (seizure, delayed development) and musculoskeletal anomalies.

I

Iridal Adhesion Syndrome (Iridocorneal Endothelial Syndrome, Iris Adhesion Syndrome)

Ocular features are posterior synechiae, irregular pupil.

Iris Nevus Syndrome (Chandler Syndrome, Cogan-Reese Syndrome, Ice Syndrome, Iridocorneal Endothelial Syndrome)

Ocular features are Unilateral glaucoma in eyes with peripheral anterior synechiae, multiple iris nodules, ectopic Descemet’s membrane, corneal edema, stromal iris atrophy, iris pigment epithelial atrophy, ectropion uveae, ectopic pupil, keratoconus, herpes simplex virus DNA has been detected in patients with iridocorneal endothelial syndrome from corneal specimens. Systemic features include Glasslike membrane covering the anterior iris surface, corneal endothelial degeneration and accompanying ectopic endothelial membranes are responsible for occlusion of the filtration meshwork and subsequent pressure increase.

Ivic Syndrome (Hearing Impairment, Internal Ophthalmoplegia, Radial Ray Defects, Thrombocytopenia)

Ocular features include strabismus, internal ophthalmoplegia. Systemic features are malformed upper limb, short distal phalanx, hearing loss, thrombocytopenia, leukocytosis, imperforate anus, radial ray defect.

J

Jabs Syndrome (Granulomatous Uveitis, And Cranial Neuropathies, Synovitis)

Ocular features are granulomatous uveitis, iritis, VI nerve palsy. Systemic features are granulomatous synovitis, corticosteroid-responsive hearing loss, boggy polysynovitis, boutonneuse deformities, granulomatous arthritis, skin involvement

Joubert Syndrome (Familial Cerebellar Vermis Agenesis)

Ocular features include choroidal coloboma, nystagmus, ocular fibrosis, telecanthus. Systemic features include episodic hyperpnea, apnea, ataxia, psychomotor retardation, rhythmic protrusion of tongue, mental retardation, micrognathia, complex cardiac malformation, cutaneous dimples over wrists and elbows.

Jugular Foramen Syndrome (Vernet Syndrome)

Ocular features include enophthalmos, ptosis, miosis. Systemic features are paralysis of the ix, x, and xi cranial nerves with resulting impairment of related function, i.e. dysphagia, loss of taste on the posterior third of the tongue and nasal regurgitation, anhidrosis, paralysis of the sternocleidomastoid muscle and part of the trapezium (upper portion), hoarseness, tachycardia, dysarthria, weight loss.

K

Karsch-Neugebauer Syndrome (Nystagus-Split Hand Syndrome)

Ocular features are horizontal nystagmus, strabismus, cataract, fundus changes. Systemic features include split hand and split foot deformities, monodactylous hands.

Kasabach–Merritt syndrome

Ocular features are giant hemangioma , Systemic features include localized intravascular coagulation causing low platelets and fibrinogen.

Kearns–Sayre syndrome

Ocular features are CPEO, pigmentary retinopathy Pigmentary degeneration of the retina, progressive external ophthalmoplegia, corneal decompensation, optic neuritis. Systemic features include mitochondrial inheritance, (granular pigmentation, peripapillary atrophy), and heart block, usually present before 20 years. Abnormal mitochondria with paracrystalline inclusion in the muscle cell, heart block, limb weakness, hyperglycemic acidotic coma, death, cerebellar dysfunction. Abnormal mitochondria with paracrystalline inclusion in the muscle cell, heart block, limb weakness, hyperglycemic acidotic coma, death, cerebellar dysfunction.

Keratoconus Posticus Circumscriptus (KPC, KPC Associated With Malformations)

Ocular features are corneal opacities, retinal coloboma, ptosis, hyperopia, iridocorneal adhesions, hypertelorism. Systemic features are cleft lip, cleft palate, neck webbing, short stature, mental retardation, inguinal hernia, undescended testes, tight heel cords, vertebral anomalies, delayed bone age, double ureters, cone-shaped epiphyses, stubby limbs and digits, limitation of extension and supination of the elbows, brachydactyly, fifth finger clinodactyly, frequent urinary tract infections, prominent nose, mild maxillary hypoplasia, low posterior hairline, short, broad feet with bilateral pes cavus, bilateral ureteric reflux.

Kiloh-Nevin Syndrome (Muscular Dystrophy Of External Ocular Muscles, Ocular Myopathy)

Ocular features include ptosis, orbicularis muscle weakness, ocular myopathy, diplopia progressing to bilateral myopathic ophthalmoplegia, may be associated with pigmentary retinopathy and heart block (see Kearns-Sayre syndrome). Systemic features include progressive muscular dystrophy in which facial muscles may be involved, occasionally, hereditary ataxia, pain, myokymia.

Kinsbourne Syndrome (Dancing Eyes Syndrome, Opsoclonus-Myoclonus Syndrome)

Ocular features include twitching of lids and eyebrows on occasion, more pronounced with activity than at rest, irregular vertical movements, jerky in appearance and sometimes with some lateral nystagmic components. Systemic features are sporadic, jerky movements of head, trunk and limbs, usually more pronounced when the child is active, lack of coordination, ataxia, irritability, mental retardation, chronic neurologic deficits.

Kirk Syndrome

Ocular features are photophobia, excessive lacrimation, amyloid corneal deposits.

Kloepfer Syndrome

Ocular features are progressive loss of vision to complete blindness associated with progressive dementia. Systemic features include severe blistering in sunlight, no increase in weight and height after erythema subsides at age 5–6 years, mental age does not progress beyond the level of imbeciles, progressive degenerative dementia occurs during or immediately after adolescence.

Knobloch Syndrome

Ocular features are high myopia, retinal detachment, vitreoretinal degeneration, persistent papillary membrane, posterior vitreous detachment, retinochoroidal staphylomas. Systemic features include occipital encephalocele, normal intelligence, congenital midline scalp defect, unusual plantar creases

Koby Syndrome (Floriform Cataract)

Ocular features are multiple opacities of different shapes (annular, floriform and polychromatic), found especially around embryonic nucleus.

Komoto Syndrome Congenital Eyelid Tetrad, Cet)

Ocular features are Ptosis, epicanthus inversus, blepharophimosis, telecanthus.

Krause Syndrome (Congenital Encephalo-Ophthalmic Dysplasia, Encephalo-Ophthalmic Syndrome)

Ocular features include microphthalmos, enophthalmos, ptosis, strabismus, secondary glaucoma, iris atrophy, anterior and posterior synechiae, scleral atrophy, persistent remnants of hyaloids artery, intraocular hemorrhages and exudates, cyclitic membranes, cataracts, retinal hypoplasia and hyperplasia, choroidal and retinal malformation, retinal glial membranes, retinal detachment, choroidal atrophy, optic nerve malformation, optic atrophy. Systemic features are congenital cerebral dysplasia, hydrocephalus or microcephaly, mental retardation, heterotopia.

L

Laron Syndrome

Ocular features include microphthalmia, reduced retinal vascularization, optic nerve hypoplasia, pseudopapilledema. Systemic features are short stature, abnormally small extremities, subnormal head circumference, increased body fat and delayed sexual development.

Larsen Syndrome

Ocular features are hypertelorism, bilateral chronic keratitis, corneal neovascularization, lower lid entropion. Systemic features include frontal bossing, depressed nasal bridge, flat face, flat and broad thumbs, skeletal dysplasia with multiple joint dislocations, unusual faces, long, cylindrical fingers, spatulate thumbs, dental abnormalities, cardiac defects, hydrocephalus, laryngotracheomalacia, dislocation of the cervical spine, tracheomalacias, heart disease, severe respiratory infection, clubfeet, multiple joint deformities, hydrocephalus, tracheal stenosis.

Laurence–Moon Syndrome

Grouped with Bardet–Biedl syndrome but no obesity or polydactyly.

Leber’s Congenital Amaurosis

Systemic features include autosomal recessive, Ocular features are blindness from birth, eyepoking (oculodigital sign), hypermetropia, sluggish or paradoxical pupillary reflexes, macular dysplasia but fairly normal fundus appearance.

Leber’s Syndrome

Systemic features are hereditary optic neuropathy Mitochondrial inheritance, Ocular features include rapid sequential visual loss in 20s to 30s due to optic neuropathy, p. 528.

Lenoble-Aubineau Syndrome (Nystagmus-Myoclonia Syndrome)

Ocular features include congenital nystagmus associated with fasciculations of muscles spontaneously elicited by mechanical stimulation or cold. Systemic features include tremors of head and limbs, myoclonic movements of extremities and trunk, hypospadias, abnormalities of teeth, facial asymmetry, localized edema.

Löfgren syndrome: presentation of sarcoidosis with fever, erythema nodosum, bihilar lymphadenopathy.

Louis–Bar Syndrome

Ocular features are progressive oculomotor apraxia. Systemic features include (ataxia telangiectasia), conjunctival telangiectasia, cerebellar ataxia, Decreased IQ, immunodeficiency.

Lowe syndrome

Ocular features are (oculocerebrorenal syndrome)., congenital cataract, microspherophakia, blue sclera, Systemic features include anterior segment dysgenesis, glaucoma, dIQ, hypotonia, vitamin D–resistant rickets. X-linked disorder of amino acid metabolism.

Majewski Syndrome

Ocular features include cataract, optic disk edema, optic atrophy, hypertelorism, absent lashes and brows, persistent pupillary membrane. Systemic features include short rib polydactyly, cleft lip, cleft palate, narrow thorax, short tibia, hypoplastic epiglottis, lung, and visceral abnormalities.

M

Marcus Gunn Syndrome (Congenital Trigemino-Oculomotor Synkinesis, Jaw-Winking Syndrome)

Ocular features are unilateral congenital ptosis in more than 90% of cases, 10% have spontaneous onset, usually in older persons, lid elevates rapidly when the mouth is opened or mandible is moved to one or the other side, the left eye seems to be more frequently affected than the right eye, high incidences of strabismus (36%), amblyopia (34%), bilateral jaw-winking, decreased abduction. Systemic features are stimulation of ipsilateral pterygoid with chewing, opening the mouth, sucking, or contralateral jaw thrusts.

Marshall-Smith Syndrome

Ocular features are hypertelorism, protuberant eyes with shallow orbits. Systemic features include feeding and respiratory difficulties, developmental delay, advanced bone age, characteristic facies.

Maffuci’s syndrome

Ocular features are multiple hemangiomas ., Systemic features are enchondromas (which may cause limb deformities), with risk of malignant transformation.

Marfan Syndrome

Ocular features are ectopia lentis, retinal detachment, glaucoma, axial myopia. Systemic features are arachnodactyly, long-limbed, aortic dissection,

Martsolf Syndrome

Ocular features are cataracts. Systemic features include Mental retardation, short stature, hypogonadism.

Meckel–Gruber Syndrome

Ocular features are coloboma, microcephaly, occipital encephalocele. Systemic features include cleft lip/palate, polydactyly, polycystic kidney disease, autosomal recessive.

MELAS Syndrome

Ocular features include ophthalmoplegia, blindness, optic atrophy, pigmentary retinopathy. Systemic features include migraines, sensorineural hearing loss, grand mal seizures, stroke-like episodes, lactic acidosis, ragged-red muscle fibers.

Menke’s Disease

Ocular features are optic atrophy, retinal dystrophy. Systemic features include x-linked recessive deficiency of copper transport protein, wiry hair, ataxia, neurodegeneration.

Meretoja’s Syndrome

Ocular features are corneal dystrophy, thin lines in the corneal stroma.

Meyer-Schwickerath-Weyers Syndrome (Microphthalmos Syndrome, Oculodentodigital Dysplasia)

Ocular features are microphthalmos, hypotrichosis, glaucoma, iris anomalies (eccentric pupil, changes in normal iris texture, remnants of the pupillary membrane along iris margins), microcornea, hypertelorism, myopia, hyperopia, keratoconus. Systemic features include thin, small nose with anteverted nostrils and hypoplastic alae, syndactyly, camptodactyly (fourth and fifth fingers), anomalies of middle phalanx of fifth finger and toe, hypoplastic teeth, wide mandible, alveolar ridge, sparse hair growth, visceral malformations.

Micropsia Syndrome (Lilliputian Syndrome)

Ocular features are Illusions, with misjudging of distance, position, and size of known objects (regarded as a psychovisual phenomenon). Systemic features include fixed hallucinations or dreams are expressions of illusions and are misinterpreted by the patient.

Midas Syndrome (Dermal Aplasia And Sclerocornea, Microphthalmia)

Ocular features are bilateral microphthalmia, sclerocornea, blepharophimosis. Systemic features include dermal aplasia, microcephaly, cardiomyopathy, ventricular fibrillation, congenital heart defect.

Mietens Syndrome (Mietens-Weber Syndrome)

Ocular features are bilateral corneal opacities, horizontal and rotational nystagmus, strabismus, bushy eyebrows, ptosis. Systemic features include growth failure, flexion contracture of the elbows, dislocation of the head of the radii, mental retardation, small pointed nose with a depressed root, low hairline, external ear defects, digital defects, hypertrichosis.

Mikulicz’s Syndrome

Ocular features are lacrimal glands. Bilateral painless enlargement of lacrimal glands with bulging of upper lid, decreased or absent lacrimation, conjunctivitis, uveitis, optic atrophy, optic neuritis, phlyctenules, keratoconjunctivitis, dacryoadenitis, retinal candlewax spots, periphlebitis. Systemic features include infiltrative swelling of salivary symmetrical, perhaps marked, enlargement of salivary glands, dryness of mouth and pharynx, hoarseness, neurologic complications.

Millard–Gubler Syndrome

Ocular features are lesion of the facial colliculus (dorsal pons) resulting in ipsilateral CN VI and VII palsies, contralateral hemiparesis.

Miller–Fisher Syndrome

The variant of Guillan–Barre syndrome characterized by ocular features like acute external ophthalmoplegia, ataxia, and areflexia.

Miller Syndrome (Wagr Syndrome, Wilms Aniridia Syndrome, Wilms Tumor-Aniridia-Genitourinary Abnormalities-Mental Retardation Syndrome)

Ocular features are glaucoma, bilateral aniridia (aniridia often not complete, with remnants of iris root present as rudimentary forms), cataract. Systemic features include Wilms tumor, mental retardation with microcephaly, genital malformations with cryptorchidism and hypospadias, hemihypertrophy, kidney anomalies (horseshoe kidney).

Möbius I Syndrome (Hemicrania, Hemiplegic, Hemiplegic-Ophthalmoplegic Migraine, Hemiplegic Familial Migraine)

Ocular features include extraocular palsy, permanent damage of oculomotor nerve III. Systemic features are hemicrania, hemiparesis, aneurysm of the internal carotid, neoplasia, headache.

Möbius Ii Syndrome (Congenital Facial Diplegia, Congenital Paralysis Of The Sixth And Seventh Nerves, Congenital Oculofacial Paralysis, Von Graefes Syndrome)

Ocular features are proptosis, ptosis, weakness of abductor muscles, normal convergence, limitation to internal rotation in lateral movements, esotropia. Systemic features include facial diplegia, deafness, loss of vestibular responses, webbed fingers or toes, clubfoot.

Monbrun-Benisty Syndrome (Ocular Stump Causalgia)

Ocular features are severe refractory pain of orbital cavity. Systemic features include pain of face and the corresponding hemicranium, congestion and hyperhidrosis of region involved.

Monofixation Syndrome (Blind Spot Syndrome, Parks Syndrome, Primary Monofixation)

Ocular features are deviation of 8 prism diopters or less by simultaneous prism and cover test, central scotoma, stereopsis, good fusional vergences found in patients with congenital esotropia, unilateral syphilitic optic perineuritis (rare), congenital esotropia (inherited in a multifactorial fashion). Systemic features include syphilis (rare).

Morning Glory Syndrome (Hereditary Central Glial Anomaly Of The Optic Disk)

Ocular features are strabismus, abnormality of embryologic development of anterior chamber (anterior chamber cleavage syndrome), remnants of hyaloid system, chorioretinal pigment surrounding optic disk, narrow branches of retinal arteries at edge of optic disk, retinal exudates and detachment, subretinal hemorrhages and retinal neovascularization, enlarged pink optic disk, funnel-shaped with a central white fluffy dot, nerve head surrounded by elevated annulus of chorioretinal pigment, unilateral Systemic features include midline cranial facial defects such as hypertelorism, cleft lip/palate, basal encephalocele, agenesis of corpus callosum, sphenoid encephalocele defects in the floor of the sella turcica, cranial, facial and neurologic associations, pituitary dwarfism, association with the CHARGE syndrome.

Mort D’amour Syndrome (Death Of Love Syndrome)

Ocular features are pupillary dilation. Systemic features include hypertension, arrhythmia, heart ischemia, rupture of cerebral aneurysm.

Mulibrey Nanism Syndrome (Perheentupa Syndrome)

Ocular features are alternating esotropia and exotropia, yellowish retinal dots and scattered pigment dispersion in clusters (especially in the midperiphery), drusen of Bruch membrane, hypoplasia of choriocapillaries (diagnostic sign).

Mulvihill-Smith Syndrome

Ocular features are keratoconus, conjunctivitis. Systemic features include patients have short stature, microcephaly, unusual facies, numerous pigmented nevi, hypodontia, sensorineural hearing loss, immunodeficiency (low IgG) and a high-pitched voice.

N

NARP Syndrome

Ocular features include retinitis pigmentosa, bulls-eye maculopathy, salt-and-pepper retinopathy. N Systemic features include ARP syndrome patients develop ataxia, weakness, and have retinitis pigmentosa, causing gradual visual field constriction.

Nematode Ophthalmia Syndrome (Toxocariasis, Visceral Larva Migrans Syndrome)

Ocular features are leukocoria, uveitis, cataract, marked vitreous reaction with large floaters, choroiditis, large, cystlike white masses extending into vitreous, optic neuritis, papillitis, strabismus, hemorrhagic, exudative or granulomatous retinitis, retinal detachment, endophthalmitis, larvae present in the cornea. Systemic features are hepatosplenomegaly, pulmonary infiltration, fever, cough, lack of appetite.

Neu Syndrome

Ocular features include hypertelorism, absent eyelids. Systemic features include flexion deformities, overlapping fingers, rockerbottom feet, protruding heels, toe syndactyly, microcephaly, short neck, tiny nose, brain atrophy.

Niemann–Pick Disease

Ocular features include cherry-red spot, vertical supranuclear gaze palsy rarely cherryred, Systemic features, including autosomal recessive, deficiency of sphingomyelinase, type A is infantile onset with visceromegaly, neurodegeneration, and, type B juvenile-onset with visceromegaly, spot, type C has a variable onset, ataxia, and neurodegeneration.

Nonne-Milroy-Meige Disease (Blepharospasm-Oromandibular Dystonia, Chronic Hereditary Edema, Chronic Hereditary Trophedema, Chronic Trophedema, Chronic Hereditary Lymphedema, Congenital Trophedema, Elephantiasis Arabum Congenita, Elephantiasis Congenita Hereditaria, Familial Hereditary Edema, Hereditary Edema, Idiopathic Hereditary Lymphedema, Meige Disease, Meige-Milroy Syndrome, Milroy Disease, Nonnemilroy Syndrome, Oromandibular Dystonia, Pseudoedematous Hypodermal Hypertrophy, Pseudoelephantiasis Neuroarthritica, Tropholymphedema, Trophoneurosis)

Ocular features include lid and conjunctival edema, blepharoptosis, distichiasis, strabismus, buphthalmos, ectropion. Systemic features include lymphedema, mandibulofacial dysostosis, unilateral or bilateral edema of ankle ascending to the knee and eventually above, rough, pigmented skin over swollen parts.

Norrie Disease

Ocular features include retinal dysplasia, retinal detachment, leukocoria, , cataract, Systemic features include phthisis,, deafness, X-linked, vitreous hemorrhage.

Nothnagel Syndrome (Ophthalmoplegia-Cerebellar Ataxia Syndrome)

Ocular features include oculomotor paresis, gaze paralysis most frequently upward, combined with some degree of internal or external ophthalmoplegia. Systemic features include cerebellar ataxia, poor upper extremity movements, neoplasia, infarction, midbrain lesion.

Nystagmus Blockage Syndrome (Nbs)

Ocular features include esotropia, nystagmus, amblyopia, most patients with this syndrome prefer to fixate with one eye, but others show alternating fixation. Systemic features include abnormal head position.

O

Oculo-Orogenital Syndrome (Gopalan Ii Syndrome, Jolliffe Syndrome, Riboflavin Deficiency Syndrome)

Ocular features include conjunctivitis, varying from mild to severe, keratitis, optic atrophy, corneal vascularization. Systemic features include stomatitis, glossitis, scrotal dermatitis with pruritus, erythema, erythema of pharynx and soft palate, small sensitive ulcers of buccal membranes, diarrhea, fatigue, muscular weakness, painful feet with erythema, exfoliation and ulceration, burning, itching, mental depression, dizziness, oral mucosa becomes pale and macerated with fissuring of skin.

Oculocerebral Syndrome With Hypopigmentation (Amish Oculocerebral Syndrome, Cross Syndrome)

Ocular features include spastic ectropion, microphthalmos, enophthalmos, microcornea, corneal opacification, corneal vascularization, palpebral conjunctival injection, narrow lid fissures, aniridia, nystagmus, bilateral optic atrophy. Systemic features include spastic diplegia, cutaneous hypopigmentation, mental retardation, hypogonadism, growth retardation, developmental defects of the CNS, such as cystic malformation of the posterior fossa of the Dandy-Walker type.

Oculorenocerebellar Syndrome (Orc Syndrome)

Ocular features include progressive tapetoretinal degeneration with loss of retinal vessels. Systemic features include mental retardation, continuous jerky movements, spastic diplegia, glomerulopathy with most renal glomeruli completely sclerosed.

Oguchi Disease

Ocular features include nonprogressive nyctalopia (CSNB), Systemic features are autosomal recessive pseudotapetal reflex which normalizes with dark adaptation (Mizuo phenomenon)

Optic Atrophy, Juvenile [Kjer-Type Optic Atrophy, Optic Atrophy, Congenital, Optic Atrophy, Kjer-Type, Oak Syndrome (Optic Atrophy, Kjer Type)

Ocular features include central scotoma, color defects, choroidal sclerosis, optic neuritis, temporal optic atrophy, aggregation of retinal pigment epithelium, tortuosity of retinal arteries and veins, reduced central vision, retinal lesions, may present with mild-to-moderate reduction of visual acuity with 50% of patients having vision between 20/60 and 20/200, visual field defect associated may be a central, paracentral or cecocentral scotoma. Systemic features are keratosis pilaris on the extremities, approximately 10% of patients present with mental abnormalities and approximately 80% of patients with neural hearing loss.

Optic Disk Traction Syndrome

Systemic features include posterior vitreous detachment or vitreopapillary fibrous membrane may be associated with retinal surgery. Ocular features are central retinal vein occlusion, optic disk traction (vitreopapillary), localized retinal detachment.

Orf Syndrome (Ecthyma Infectiosum)

Ocular features include pigmentation of lids. Systemic features include single or multiple lesions of hands and other parts of body, itching, fever, concurrent aseptic meningitis caused by enterovirus.

Outer Retinal Ischemic Infarction Syndrome

Ocular features are acute loss of central and paracentral vision, whitening of the outer retinal layers in posterior fundus, mottled changes in the pigment epithelium

P

Pallidal Degeneration, Progressive, With Retinitis Pigmentosa (Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration, HARP Syndrome)

Ocular features are retinitis pigmentosa. Systemic features include progressive extrapyramidal rigidity, dysarthria.

Pancoast Syndrome (Hare Syndrome, Superior Pulmonary Sulcus Syndrome)

Ocular features include mild enophthalmos, ptosis, narrowing of the palpebral fissure, miosis. Systemic features include pulmonary apical tumor, severe shoulder pain, paresthesia, pain and paresis of the homolateral arm with atrophy of arm and hand muscles.

Parinaud Syndrome

Systemic features are lesion of the dorsal midbrain Ocular features include light-near dissociation, supranuclear upgaze palsy, convergence retraction nystagmus, and failure of convergence and accommodation.

Patau syndrome

Systemic features are Trisomy 13, 1 in 14,000 live births, microcephaly, life expectancy < 3 months, Ocular features are cyclopia, colobomata, retinal dysplasia.

Petzetakis-Takos Syndrome (Phlyctenular Keratoconjunctivitis)

Ocular features include superficial keratitis, palpebral edema, corneal hyperesthesia, photophobia, blepharospasm, decreased pupillary response, xerophthalmia. Systemic features include lymph node hypertrophy.

Pigmentary Ocular Dispersion Syndrome (Pigmentary Glaucoma)

Ocular features include myopia, glaucomatous field changes, ocular hypertension, iris translucency, abnormal number of iris processes, insertion of iris anterior to scleral spur, pigmentation of posterior trabecular meshwork, grades 3–4, Systemic features include krukenberg spindles, presence of pigmentation on equatorial border of lens capsule, glaucomatous cupping and myopic optic nerve changes.

Pillay Syndrome (Ophthalmomandibulomelic Dysplasia)

Ocular features include temporomandibular fusion, obtuse mandibular angle, short forearms. Systemic features are diagnosis is made by clinical findings.

Plummer-Vinson Syndrome (Paterson-Brown-Kelly Syndrome, Sideropenic Dysphagia Syndrome, Waldenstrom-Kjellberg Syndrome)

Ocular features include reduced tear formation, pale conjunctiva, dry eyes, retinal hemorrhages, papilledema. Systemic features include dysphagia for solid food with main difficulties originating in the upper portion of the esophagus, glossitis and gastritis, anemia, atrophy of mucous membranes, dystrophy of the fingernails (koilonychia), fatigue.

Poems Syndrome (Endocrinopathy, Monoclonal Gammopathy And Skin Changes, Organomegaly, Polyneuropathy)

Ocular features are bilateral optic disk edema and bilateral cystoid macular edema. Systemic features are hyperpigmentaion and lower extremity edema, hypertrichosis, angiomas, motor deficiency, deep tendon reflexes are diminished, endocrinopathy, hypogonadism, pulmonary hypertension, hepatomegaly, splenomegaly and lymphadenopathy.

Posner-Schlossman Syndrome (Glaucomatocyclitic Crisis)

Ocular features include slight blurring of vision and colored halos during episodes of high intraocular tension, high intraocular pressure (unilateral), glaucomatocyclitic crisis (benign and usually unilateral), enlarged pupil, anisocoria, absence of ciliary or conjunctival injection, only trace of aqueous flare, no posterior synechiae, chamber angle open, heterochro Systemic features include allergy, associated with gastrointestinal disease (peptic ulcers).

Posterior Iris Chafing Syndrome

Ocular features include iris transillumination defects, recurrent microhyphemas, pigment dispersion glaucoma, pigment deposition in trabecular meshwork, iris pigment atrophy.

Posthypoxic Encephalopathy Syndrome (Parieto-Occipital Syndrome, Posthypoxic Syndrome)

Ocular features include nystagmus, nuclear ophthalmoplegia, visual hallucinations, partial cerebral blindness (predominant defects in the sphere of psychic elaboration rather than in primary visual perception), complete cortical blindness, central scotomata, pupillary paresis, retinal atrophy, optic atrophy. Systemic features are confusion, irritability and agitation, alexia, disorientation (mainly spatial), muscle spasm.

Potter Syndrome (Renal Agenesis Syndrome, Renofacial Syndrome)

Ocular features include hypertelorism, pronounced epicanthal folds extending down the cheeks, antimongoloid slant of palpebral fissure. Systemic features include flat bridge of the nose, low-set ears, facial deformities, micrognathia, pulmonary hypoplasia, cystic dysplasia of kidney to agenesis, oligohydramnios, clubbing of hands and feet, spina bifida, prominent infracanthal folds, flattened beaked nose, creased skin, positional deformities of the limbs.

Progressive Intracranial Arterial Occlusion Syndrome (Taveras Syndrome)

Ocular features include unilateral ptosis, defective optokinetic nystagmus, visual agnosia, amaurosis fugax. Systemic features include progressive intracranial arterial occlusion with both internal carotid arteries involved, memory loss, muteness, localized numbness, crying spells, catatonic states and episodes, staring, seizures.

Pseudo-Ophthalmoplegia Syndrome (Roth-Bielschowsky Syndrome)

Ocular features include paralysis of lateral gaze in one direction, vestibular nystagmus in which the fast phase is absent on the ipsilateral side but the slow phase is present. Systemic features include basal ganglia or tectum lesion.

Purtscher Syndrome (Duane Retinopathy, Fat Embolism Syndrome, Traumatic Retinal Angiopathy, Traumatic Liporrhagia, Valsalva Retinopathy Of Duane)

Ocular features are retinal and preretinal hemorrhages over entire fundus, cotton-wool exudates, mainly posterior aspect, retinal edema, posterior and macular serous detachment, venous congestion and engorgement, papilledema, usually bilateral, although unilateral causes have been reported. Systemic features include multiple fractures (mainly extensive crushing), lung congestion, dyspnea, lymphorrhagia, pancreatitis, scleroderma, dermatomyositis, lupus erythematosus, childbirth.

R

Raymond Syndrome [Cestan (2) Syndrome, Disassociation Of Lateral Gaze Syndrome, Pontine Syndrome, Raymond-Cestan Syndrome]

Ocular features include ipsilateral abducens palsy, paralysis of lateral conjugate gaze. Systemic features are contralateral hemiplegia, anesthesia of the face, limbs, and trunk.

Relapsing Polychondritis (Jaksch-Wartenhost Syndrome, Meyenburg-Altherz-Vehlinger Syndrome, Von Meyenberg Ii Syndrome)

Ocular features include Conjunctivitis, corneal ulcer, exophthalmos, panophthalmitis, phthisis bulbi, proptosis, optic neuritis, papilledema, retinal detachment, blue sclera, episcleritis, scleromalacia, vitreous opacity, cataracts, nystagmus, retinal artery thrombosis, keratoconjunctivitis sicca, secondary glaucoma, scotoma, uveitis, paresis of third or sixth nerve, conjunctival mass (salmon patch), chorioretinitis. Systemic features include destruction of cartilage and eventual replacement with connective tissue, polyarthritis, chondritis, tracheal collapse, bronchial collapse, anemia, liver dysfunction, death, malaise, fever, dyspnea, changes in pitch of voice, hearing impairment, vertigo, deformed ears, aortic valve insufficiency.

Refsum’s Disease

Systemic features are autosomal recessive, deficiency of phytanic acid A-hydrolase results in accumulation of phytanic acid, , ichthyosis, deafness, cardiomyopathy, ataxia. Riley–Day syndrome (familial dysautonomia) autosomal recessive, sensory neuropathy, autonomic dysfunction/crises, more common in Ashkenazi Jews, tear deficiency, commonly with ulceration Ocular features are keratoconjunctivitis sicca, reduced corneal sensation, pigmentary retinopathy, optic atrophy.

Retinohypophysary Syndrome (Benign Retinohypophysary Syndrome, Lijo Pavia-Lis Syndrome)

Ocular features include superior nasal field contraction, narrowing of retinal vessels, macular edema, optic neuritis, optic atrophy, visual field defects. Systemic features include glycosuria, headache, vertigo, psychic disturbances.

Retinopathy, Pigmentary, And Mental Retardation (Mirhosseini-Holmes-Walton Syndrome)

Ocular features include pigmentary retinal degeneration, cataract, keratoconus. Systemic features include microcephaly, severe mental retardation, hyperextensible joints, scoliosis, arachnodactyly, hypogonadism.

Retroparotid Space Syndrome (Posterior Retroparotid Space Syndrome, Villaret Syndrome)

Ocular features are enophthalmos, ptosis, lagophthalmos, epiphora, miosis, may produce sympathetic overactivity resulting in increased sympathetic outflow (i.e. pupillary dilation, widened palpebral fissure and facial sweating). Systemic features include homolateral paralysis cranial nerves IX to XII, with dysphagia and loss of taste in posterior third of the tongue, dysphonia, paralysis of sternocleidomastoid and trapezium muscles, paralysis cranial nerve VII occasionally.

Reye Syndrome (Acute Encephalopathy Syndrome)

Ocular features include cortical blindness, dilated pupils with absent or sluggish reaction to light, papilledema. Systemic features include respiratory infections with recovery between 3 and 21 days, vomiting after recovery from infection, dyspnea, hypotonia, coma, convulsions, fever, flexion of elbows and hands.

Rollet Syndrome (Orbital Apex-Sphenoidal Syndrome)

Ocular features include exophthalmos, ptosis, hyperesthesia or anesthesia of the upper lid, ophthalmoplegia (partial or complete), wide pupil with loss of reaction on accommodation, neuralgic pain in the region of the ophthalmic branch of cranial nerve V, anesthesia of the cornea, papilledema, optic neuritis, optic atrophy, diplopia, herpes zoster ophthalmicus. Systemic features include hyperesthesia or anesthesia of the forehead, inflammation of cavernous sinuses, meningoencephalitis.

Rosenberg-Chutorian Syndrome

Ocular features include optic atrophy. Systemic features include polyneuropathy, neural hearing loss.

Rothmund Syndrome (Congenital Poikiloderma With Juvenile Cataract, Ectodermal Syndrome, Rothmund-Thomson Syndrome, Telangiectasia-Pigmentation-Cataract Syndrome)

Ocular features include eyebrows may be sparse or absent, hypertelorism, cilia sometimes are diminished or absent, trichiasis, epiphora, cataracts (anterior subcapsular, posterior stellate or perinuclear type), corneal lesions, retinal hyperpigmentation, keratoconus, strabismus, epibulbar dermoids. Systemic features are poikiloderma, hypogonadism, hypomenorrhea, head deformity (enlarged with depressed nasal bridge as well as microcephaly), small stature, with short or malformed distal phalanges, aplasia cutis congenita (congenital absence of skin in one or more areas), alopecia.

Rubella Syndrome (Congenital Rubella Syndrome, German Measles, Gregg Syndrome)

Ocular features include nystagmus, glaucoma, corneal haziness, cataracts, retinal pigmentary changes, appearance and central distribution of lesions are quite distinguishable from retinitis pigmentosa, retinopathy is not progressive and has little, if any, effect on vision, waxy atrophy of optic disk, conjunctivitis, megalocornea or microcornea, buphthalmos, microphthalmos, uveitis, iris atrophy, spherophakia, strabismus Systemic features include LOw-birth-weight, diarrhea, pneumonia, urinary infection, hearing loss, heart disease, hepatosplenomegaly, mental retardation, inguinal hernias, ataxia, cardiac abnormalities.

Rubinstein–Taybi Syndrome

Ocular features include hypertelorism, colobomas, Antimongoloid slant of lid fissure, epicanthus, long eyelashes and highly arched brows, strabismus, myopia, hyperopia, iris coloboma, cataract, optic atrophy, ptosis, retinal detachment., Systemic features include developmental abnormality broad thumbs/big toes, maxillary/ mandibular hypoplasia, hypertrichosis,. Motor and mental retardation, broad thumbs and toes, highly arched palate, allergies, heart murmurs, anomalies of size, shape, and position of ears, dwarfism, cryptorchidism.

Russell Syndrome

Ocular features include lid retraction, nystagmus (horizontal, vertical, or rotatory), homonymous hemianopsia, optic nerve atrophy. Systemic features include extreme emaciation, euphoria, pale skin.

S

Sabin-Feldman Syndrome (Chorioretinitis)

Ocular features include Microphthalmia, strabismus, fixed pupils, poste rior lenticonus, microcornea, chorioretinitis or atrophic degenerative chorioretinal changes, optic atrophy. Systemic features are cerebral calcifications (infrequent), convulsions (frequent), microcephaly, hydrocephalus.

Saldino-Mainzer Syndrome (Retinitis Pigmentosa)

Ocular features include tapetoretinal degeneration, retinal atrophy, Leber congenital amaurosis, retinitis pigmentosa. Systemic features are nephronophthisis, coneshaped epiphyses of hands and feet, flared ribs, hypoplastic pelvis, brachydactyly, hyperparathyroidism, osteomalacia, osteopetrosis, renal failure.

Sandifer Syndrome (Hiatal Hernia-Torticollis Syndrome)

Ocular features include strabismus (not related to existing torticollis). Systemic features include rotation of the head to one shoulder with stretching of the neck (more pronounced during eating and reading), epigastric pain associated with vomiting, primarily in infancy, malnutrition, hiatal hernia, asthenia. Systemic features are deficiency of hexosominadase A and B, cherry-red spot, optic atrophy, splenomegaly, neurodegeneration.

Sands Of The Sahara Syndrome (Diffuse Lamellar Keratitis)

Ocular features include Interface inflammation after LASIK is a rare, but potential sightthreatening complication, syndrome presents 1–5 days after LASIK, affected patients often complain of decreased or cloudy vision, foreign body sensation, and photophobia, symptoms may be mild or severe, cause of the interface debris is unknown, but microkeratome material is implicated.

Sandwich Infectious Keratitis Syndrome (SIK Syndrome)

Ocular features include infectious infiltrates in the interface of the corneal which are white small irregular or circular.

Scaphocephaly Syndrome

Ocular features include shallow orbits, proptosis, nystagmus, exotropia, aniridia, cataract, papilledema, optic atrophy, aniridia, dislocated lens. Systemic features are long anteroposterior head diameter, short transverse diameter of the head, increased intracranial pressure, flat forehead with absent superciliary arches, prominent nose, mental retardation.

Schaumann Syndrome (Besnier-Boeck-Schaumann Syndrome, Boeck Sarcoid, Sarcoidosis)

Ocular features are orbital granulomatous mass, bony defects, cutaneous and subcutaneous nodules, myogenic palsy, lacrimal gland adenopathy, decreased tear Ocular Syndromes and Systemic Diseases 707 formation, secondary glaucoma, granulomatous uveitis with iris nodules, cells, and flare, mutton fat keratitic precipitates, keratitis sicca, vitreous floaters, bandshaped keratitis, complicated cataract, inflammatory retinal exudates, “candle wax drippings”, optic nerve atrophy, neuritis, eyelid nodules, ocular nerve enlargement (granuloma). Systemic features are lymphadenopathy, hilar nodes, fatigue, cystic, punched out or reticulated changes in small bones (mainly hands and feet), muscle wasting, contractures, weakness in legs and arms.

Schnyder’s Crystalline Corneal Dystrophy

Ocular features are hypercholesterolemia and genu valgam. Systemic features are central corneal haze, subepithelial cholesterol crystal deposition, midperipheral, panstromal haze and arcus lipoides.

Schomberg Disease (Subconjunctival Hemorrhage)

Ocular features are subconjunctival hemorrhage. Systemic features include petechiae may occur in any tissue, bleeding from any orifice.

Schwartz Syndrome (Retinal Detachment)

Ocular features are secondary openangle glaucoma, retinal detachment, uveitis, myopia, blepharophimosis, long eyelashes, microcornea. Systemic features are small stature, myotonia, expressionless facies, joint limitation in hips, dystrophy of epiphyseal cartilage, vertical shortness of vertebrae, short neck, low hairline.

Second Eye Syndrome

Ocular features include increased pain during the second surgery. Systemic features include diagnosis is made by clinical findings.

Senter Syndrome [Corneal Involvement, And Deafness (Keratitis), Keratitis-Ichthyosis-Deafness Syndrome, Kid Syndrome, Ichthyosiform Erythroderma]

Ocular features are corneal involvement. Systemic features include ichthyosiform erythroderma, deafness, hepatomegaly, hepatic cirrhosis, glycogen storage, short stature, mental retardation, hepatitis.

Shy-Drager Syndrome (Orthostatic Hypotension Syndrome, Shy-Mcgee-Drager Syndrome)

Ocular features include external ophthalmoplegia, iris atrophy, ocular sympathetic and parasympathetic insufficiency (alternating Horner syndrome, cholinergic supersensitivity, decreased lacrimation, and corneal hypesthesia). Systemic features are orthostatic hypotension, rigidity, tremor, adiadochokinesia, wasting of muscles, mental retardation, impotence, dysphagia, bilateral vocal cord paralysis, neurogenic bladder, anhydrosis, extremity weakness and paresthesia, dizziness, abnormal postural balance.

Sluder Syndrome (Lower Facial Neuralgia Syndrome, Sphenopalatine Ganglion Neuralgia Syndrome)

Ocular features are severe orbital pain, increased lacrimation during episodes of pain. Systemic features include unilateral facial pain, mainly root of nose, orbit, and mastoid area, episodes of headaches, nasal congestion.

Snuff-Out Syndrome (Snuff Syndrome)

Ocular features are loss of central fixation, reduction in visual acuity, reduction in visual field, cataract, glaucoma.

Spasmus Nutans Syndrome

Ocular features are bilateral nystagmus, attempt at gaze fixation intensifies manifestations. Systemic features are rhythmic movements of head in upright position.

Stargardt’s Disease (Fundus Flavimaculatus)

Ocular features are macular dystrophies, with two clinical presentations: Stargardt’s (“beaten-bronze” atrophy, yellowish flecks of the posterior pole, significant dVA) and fundus flavimaculatus (widespread pisciform flecks with relative preservation of vision), p. 459. Systemic features are autosomal recessive (usually Ch1p, ABCA4),

Steele–Richardson–Olszewski (Progressive Supranuclear Palsy)

Systemic features include neurodegenerative disease of the elderly Parkinsonism, pseudobulbar palsy, and dementia. , Ocular features include supranuclear vertical gaze, postural instability.

Sturge-Weber Syndrome (Encephalofacial Angiomatosis, Encephalotrigeminal Syndrome, Meningocutaneous Syndrome, Neuro-Oculocutaneous Angiomatosis, Vascular Encephalotrigeminal Syndrome)

Ocular features are unilateral hydrophthalmos, secondary glaucoma (late) conjunctival angiomata (telangiectases), iris decoloration, nevoid marks or vascular dilation of the episclera, glioma, serous retinal detachment, choroidal angiomata, deep anterior chamber angle, port-wine stain of eyelid, buphthalmos, optic nerve cupping, anisometropia, hemianopsia, increased corneal diameter, enophthalmos, exophthalmos, optic atrophy, choroidal hemangioma, anterior chamber angle vascularization. Systemic features include vascular port-wine nevus (face, scalp, limbs, trunk, leptomeninges), acromegaly, facial hemihypertrophy, intracranial angiomas, convulsion, mental retardation, obesity, limb atrophy.

Stickler’s Syndrome (Hereditary Arthro-Ophthalmopathy)

Ocular features are , high myopia, optically empty vitreous, retinal detachments, cataract, ectopia lentis, glaucoma. Systemic features include autosomal dominant (Ch12q, COL2A1), abnormality of type II collagen , arthropathy, Pierre Robin sequence (micrognathia, high arched/cleft palate), sensorineural deafness, mitral valve prolapse, p. 389.

Sturge–Weber syndrome

Systemic features are phakomatosis with port-wine stain of the face . Ocular features are ocular and CNS hemangiomas,

Sunrise Syndrome

Ocular features are edge of IOL in pupil, decreased visual acuity, glare.

Sunset Syndrome

Ocular features are superior edge of IOL in pupil, IOL in vitreous body, retinal detachment, decreased visual acuity, glare, zonular disinsertions.

Susac Syndrome

Ocular features include cotton-wool spot, central retinal vein occlusion. Systemic features include hearing loss, encephalopathy.

T

Tangier Syndrome (Alpha-Lipoprotein Deficiency, Familial High-Density Lipoprotein Deficiency)

Ocular features are corneal infiltrates, fine, dotted stromal opacities, most marked in posterior central third of corneal stroma, wasting of orbicularis oculi muscle. Systemic features include maculopapular rash, orange-yellow striped tonsils, hepatosplenomegaly, lymphadenopathy, intermittent diarrhea, bilateral motor weakness.

Tapetal-Like Reflex Syndrome

Ocular features are ring scotoma, discrete bright yellow spots in posterior polar region deep to the retinal vessels, tapetal-like reflex and retinitis pigmentosa may be present in members of the same family.

Tay–Sachs Disease

Systemic features include autosomal recessive (Ch15q, HEXA), GM2 gangliosidosis with deficiency of hexosominadase A, neurodegeneration.

Ocular features are cherry-red spot, optic atrophy,

Terson Syndrome (Subarachnoid Hemorrhage Syndrome)

Ocular features are Weakness of extraocular muscles, disarranged and uncoordinated gaze, severe intraocular hemorrhage, preretinal hemorrhages, peripapillary hemorrhages, papilledema secondary to optic nerve sheath hemorrhages, pigmentary changes in macula and retina, preretinal membrane formation, vitreous detachment, amblyopia, anisocoria, bilateral retinal detachments have been associated with this disorder, epiretinal membranes (sequelae). Systemic features include Sudden unconsciousness, elevated cerebrospinal fluid pressure.

Tolosa-Hunt Syndrome (Painful Ophthalmoplegia)

Ocular features are Steadily “growing” retro-orbital pain, ptosis, involvement of cranial nerves III, IV, VI, and first division of V, scintillating scotomata, sluggish pupil reaction to light, corneal sensitivity diminished, optic neuritis. Systemic features include Inflammatory lesions of cavernous sinus.

Transient Light Sensitivity Syndrome (Uveitis)

Ocular features are transient postoperative photosensitivity.

Traumatic Encephalopathy Syndrome (Postconcussion Syndrome, Post-Traumatic General Cerebral Syndrome, Punch-Drunk Syndrome)

Ocular features are nystagmus or Nystagmoid ocular movements, lower lid colobomas, dermoids Systemic features are personality change, rigid face without expression, staggering gait, dysphonia.

Treacher–Collins Syndrome (Mandibulofacial Dysostosis)

Ocular features are antimongoloid palpebral fissures, , Systemic features include mandibular hypoplasia, zygoma hypoplasia, choanal atresia Autosomal dominant (Ch5q), clefting syndrome,.

Treft Syndrome

Ocular features are optic atrophy, visual loss, ptosis, ophthalmoplegia. Systemic features include hearing loss by age of 14 years, myopathic changes, balance difficulty.

Turcot syndrome

Systemic features are variant of familial adenomatous polyposis (autosomal dominant) with CNS neuroepithelial tumors, especially medulloblastoma and glioma, Ocular features are atypical CHRPE.

Turner Syndrome

Ocular features are antimongoloid palpebral fissures, cataracts, convergence insufficiency .Systemic features are XO, 1 in 2000 live female births, , short stature, wide carrying angle, low hair line, webbed neck, primary gonadal failure, congenital heart defects.

U

UGH Syndrome (Uveitis-Glaucoma-Hyphema Syndrome)

Ocular features are uveitis, glaucoma, hyphema (UGH).

Ullrich Syndrome (Dyscraniopylophalangy, Ullrich-Feichtiger Syndrome)

Ocular features are microphthalmia to anophthalmia, hypertelorism, narrow lid fissures, strabismus, glaucoma, aniridia, cloudy cornea, corneal ulcers, chorioretinal coloboma. Systemic features include hypoplastic mandible, broad nose, polydactyly, spina bifida, bicornuate uterus or septa vagina, congenital heart disease.

Unverricht Syndrome (Familial Myoclonia Syndrome, Lafora Disease)

Ocular features include amaurosis, laminated Lafora bodies in ganglion cell and inner nuclear layers of the retina, either intracellular or extracellular, in inner plexiform and nerve fiber layers, and in the optic nerve. Systemic features are major epilepsy, widespread myoclonus, dementia, tetraplegia, pseudobulbar palsy, generalized tonic-clonic seizure, behavioral changes, brisk tendon reflexes, cerebellar signs.

Urrets-Zavalia Syndrome

Ocular features are fixed dilated pupil, iris atrophy ssen after penetrating keratoplasty.

Usher Syndrome (Hereditary Retinitis Pigmentosa-Deafness Syndrome)

Ocular features are concentric contraction of visual fields, retinitis pigmentosa with dotted, fine pigmentation in midperiphery, bone-corpuscle configured pigment deposits mainly along the vessels toward the periphery, yellow-white dots in outer retina and choroid, poor night vision. Systemic features include deaf-mutism, however, deafness is not always complete, multiple sclerosis.

Uvea Touch Syndrome

Ocular features are corneal decompensation, endothelial dystrophy, retinal edema, pigment dispersion, painful eye, disorders of motility. Systemic features include uveal effusion syndrome: Idiopathic exudative detachments of choroid, ciliary body and retina, thought to arise from impaired posterior segment drainage usually associated with scleral thickening

Uyemura Syndrome (Fundus Albipunctatus With Hemeralopia And Xerosis)

Ocular features are night blindness, conjunctival xerosis, Bitot spots, white spots on the fundus.

V

Van Bogaert-Hozay Syndrome (Esotropia)

Ocular features are hypertelorism, hypoplastic cilia and eyebrows, ptosis, esotropia, astigmatism, myopia. Systemic features include facial dysplasia, broad nasal bridge and zygomatic arch, flat, wide nose, arched palate, skeletal anomalies with short, thick phalangeal joints, finger and toes appear infantile, flat nasal bridge, thickened cheeks, deformed ears, micrognathia.

Van Bogaert-Scherer-Epstein Syndrome (Familial Hypercholesterolemia Syndrome, Primary Hyperlipidemia)

Ocular features include xanthelasma, arcus juveniles of the cornea, lipid keratopathy, cataract, retinopathy with yellowish deposits and cholesterol crystals have been reported but are more rare manifestations. Systemic features are xanthelasmatosis of skin and tendons, progressive atherosclerosis, coronary insufficiency, cardiac infarcts, dementia, progressive ataxia, cerebral infarction, polyneuropathy.

Van Der Hoeve Syndrome (Brittle Bone Disease, Eddowes Syndrome, Ekman Syndrome, Lobstein Syndrome, Osteogenesis Imperfecta, Osteopsathyrosis, Spurway Syndrome, Vrolik Syndrome)

Ocular features are glaucoma, blue sclera, keratoconus, cataract, optic nerve atrophy, retinopathy, retinal detachment. Systemic features include brittle bones, deafness, hyperflexibility of ligaments, dental defects, developmental delay.

Velocardiofacial Syndrome (Di-George Syndrome)

Ocular features are retinal vascular tortuosity, posterior embryotoxon, narrow palpebral fissures, suborbital discoloration, small optic nerves, iris nodules, cataracts, prominent corneal nerves, strabismus, hyperopia, myopia, astigmatism, anisometropic astigmatism. Systemic features are cleft palate, learning disability, ventricular septal defect with or without the tetralogy of Fallot, rightsided aortic arch, prominent nose, retrognathia, helical thickening, small auricles, auricular protrusion, microcephaly, small stature, inguinal or umbilical hernia, scoliosis, slender hands and digits, small vermis, small posterior fossa, developmental delay, heart malformations, lateonset psychosis.

Visual Disorientation Syndrome (Riddoch Syndrome)

Ocular features include visual agnosia, stereoscopic vision and central vision unimpaired, homonymous quadrantanopsia. Systemic features are contralateral numbness and tingling, loss of static or postural sensation when postcentral convolution affected.

Vitreous Tug Syndrome (Vitreous Wick Syndrome)

Ocular features are sensation of light flashes due to vitreous pull on the retina, irregular pupil, vitreous strands passing through pupil to attach to corneal wound or scar, loss of foveal reflex on ophthalmoscopic examination, circumscribed retinal edema, occasional posterior retinal detachment.

Vogt-Koyanagi–Harada syndrome

Ocular features are bilateral granulomatous panuveitis Systemic features include multisystem inflammatory disease, , vitiligo, alopecia, deafness, tinnitus, sterile meningoencephalitis and cranial neuropathies.

Von Bekhterev-Strumpell Syndrome (Ankylosing Spondylitis, Bekhterev Disease, Marie-Strumpell Spondylitis, Pierre-Marie Syndrome, Rheumatoid Spondylitis)

Ocular features are nongranulomatous anterior uveitis, optic nerve atrophy (occasionally), hypopyon, band keratopathy, spontaneous hyphema. Systemic features are spondylitis of vertebra and sacroiliac joints, ankylosis, general arthralgia, kyphosis, scoliosis, displaced head and total rigidity of spine.

Von Reuss Syndrome (Galactokinase Deficiency, Galactosemia, Galactosemic Syndrome)

Ocular features are searching-type nystagmus, bilateral nuclear or cortical cataracts appear clinically as oil droplets, bilateral zonular cataracts with fine punctate opacities in the lens periphery. Systemic features include vomiting, refusal of food, diarrhea, weight loss, hepatomegaly with ascites, jaundice, galactosuria, aminoaciduria, dehydration, hypoglycemic crisis, failure to thrive, hypotonia, lethargy, severe mental and neurologic manifestations. Von-Hippel Lindau Autosomal dominant (Ch3p, VHL gene), phakomatosis with retinal capillary hemangiomas, CNS hemangioblastomas, renal cell carcinomas, and other tumors, p. 645.

W

Waardenburg Syndrome

Ocular features are heterochromia, hypertelorism Hyperplasia of the medial portions of the eyebrows, hypertelorism, blepharophimosis, strabismus, heterochromia iridis, aniridia, microcornea, cornea plana, microphakia, abnormal fundus pigmentation, hypoplasia of optic nerve, synophrys, poliosis, hypopigmentation and hypoplasia of retina and choroid, epicanthus, lateral displacement of inferior puncta, lenticonus, underdevelopment of orbital bones, lateral displacement of inner canthi, hypopigmented iris., Systemic features are autosomal dominant (PAX3), white forelock, deafness. Congenital deafness, unilateral deafness or deafmutism, broad and high nasal root with absent nasofrontal angle, albinotic hair strain (unilateral), faint patches of skin pigmentation, pituitary tumor, nasal atresia, white forelock.

Walker-Clodius Syndrome

Ocular features are hypertelorism, nasolacrimal obstruction with constant epiphora, mucopurulent conjunctival discharge, keratitis, nanocanalization of the lacrimal duct. Systemic features are deformities of hands and feet (“lobster claw”), absence of both index and middle fingers and second metacarpals with rudimentary third metacarpals, syndactylism, cleft palate and lips, deafness, ear malformation, renal anomalies.

Walker-Warburg Syndrome (Cerebro-Ocular Dysplasia-Muscular Dystrophy, Cod-Md Syndrome, Fukuyama Congenital Muscular Dystrophy, Hard + Or - E Syndrome, Warburg Syndrome)

Ocular features are microphthalmia, cataract, immature anterior chamber angle, retinal dysplasia, retinal detachment, persistent hyperplastic primary vitreous, optic nerve hypoplasia, iris coloboma, opaque cornea, myopia, orbicularis weakness, irregular gray subretinal mottling, optic atrophy. Systemic features include cerebral and cerebellar agyria-micropolygyria, cortical disorganization, glialmesodermal proli feration, neuronal heterotopias, hypoplasia of nerve tracts, hydrocephalus, encephalocele, muscular dystrophy, seizures, mental retardation, hypotonia, abnormal facies.

Ward Syndrome (Epitheliomatous Phakomatosis, Nevus-Jaw Cyst Syndrome)

Ocular features include hypertelorism, dystopia canthorum, nevi of eyelids, congenital cataracts, congenital corneal opacities, colobomata. Systemic features are basal cell nevi with multiple basalomatous nodules on face, neck and trunk, epithelioma adenoides cysticum.

Wermer Syndrome (Endocrine Adenoma-Peptic Ulcer Complex, Multiple Endocrine Neoplasia 1, Men1, Multiple Endocrine Adenomatosis 1, Mea1, Pluriglandular Adenomatosis N)

Ocular features are visual field defects secondary to pituitary adenoma. Systemic features include parathyroid adenomas or hyperplasia, pancreatic adenomas, pituitary adenomas, thyroid adenomas, adrenocortical adenomas, subcutaneous lipomas, hypoglycemic crisis, headaches, amenorrhea, diarrhea, weight loss, acromegaly, Cushing syndrome, hyperthyroidism, ulcer, cerebral aneurysm.

Werner Syndrome

Ocular features are absence of eyelashes and scanty eyebrows, blue sclera, juvenile cataracts, bullous keratitis, trophic corneal defects, paramacular retinal degeneration, proptosis, telangiectasia of lid, astigmatism, nystagmus, presbyopia, uveitis. Systemic features include leanness, short stature (160 cm maximum), thin limbs, short, deformed fingers, small mouth, early baldness, stretched, atrophic skin (scleropoikiloderma), telangiectasia and trophic indolent ulcers on toes, heels and ankles, arteriosclerosis with secondary heart failure.

West Syndrome (Massive Myoclonia, Jackknife Convulsion)

Ocular features include nystagmus Systemic features are convulsion, nodding of the head, opisthotonos, mental retardation.

Wildervanck Syndrome (Cervico-Oculo-Acousticus Syndrome, Cervico-Oculo-Facial Dysmorphia, Cervicooculofacial Syndrome, Franceschetti-Klein-Wildervanck Syndrome, Wildervanck-Waardenburg Syndrome)

Ocular features are abducens paresis, nystagmus, heterochromia iridis. Systemic features are deafness or deaf-mutism, torticollis with short, webbed neck, epilepsy, mental retardation, cleft palate, scoliosis, ventricular septal defect, ectopic kidney, hydrocephalus, hypoplastic thumb, and growth retardation.

Windshield Wiper Syndrome

Ocular features include ruptured zonules, lateral intraocular lens tilt, lateral decentration of the intraocular lens, decreased visual acuity, glare

Wolf Syndrome (Chromosome 4 Partial Deletion Syndrome, Hirschhorn-Cooper Syndrome, Monosomy 4 Partial Syndrome)

Ocular features are hypertelorism, antimongoloid slanting of palpebral fissures, ptosis, nystagmus, strabismus, iris coloboma, retinal coloboma. Systemic features are microcephaly, mental retardation, seizures, ear malformations, hypospadias, beaked nose, broad nasal root, cleft lip and palate, hypotonia.

X

X-Linked Cone Dysfunction Syndrome

Ocular features are myopia, visual loss, color vision abnormality. Systemic features include diagnosis is made by clinical findings.

Xxxxx Syndrome (Penta X Syndrome, Tetra X Syndrome)

Ocular features include epicanthal folds, hypertelorism, antimongoloid (upward slant) of palpebral fissures. Systemic features are growth retardation, bilateral.

Y

Young-Simpson Syndrome

Ocular features include blepharophimosis Systemic features are congenital hypothyroidism, congenital heart defects, facial dysmorphism (microcephaly, bulbous nose, low-set ears, micrognathia), cryptorchidism in males, hypotonia, mental retardation, postnatal growth retardation.

Z

Zinsser-Engman-Cole Syndrome (Cole-Rauschkolb-Toomey Syndrome, Dyskeratosis Congenita With Pigmentation)

Ocular features are ectropion, chronic blepharitis, obstruction of lacrimal puncta, conjunctival keratinization, bullous conjunctivitis, epiphora, nasolacrimal duct obstruction, loss of eyelashes, cataract, glaucoma, strabismus, abnormal fundi. Systemic features include congenital dyskeratosis with the pigmentation of “marble” configuration or “gunmetal” appearance, atrophic areas and telangiectasis, dystrophy of nails, vesicular and bullous lesions of oral cavity followed by ulceration, mucosal atrophy, leukoplakia, aplastic anemia, defect ofteeth, physical and mental development may be retarded, tufts of hairs on the limbs, keratinized basal cell, papillomas on the trunk.

Zollinger-Ellison Syndrome (Multiple Endocrine Adenomatosis Partial Syndrome, Polyglandular Adenomatosis Syndrome)

Ocular features are scotomata according to size and position of pituitary tumors, optic nerve atrophy, papilledema, bilateral extraocular muscle metastases. Systemic features include enteritis and/or peptic ulcers, malignant or benign tumor of islet cell of the pancreas, hypersecretion, vomiting, diarrhea, polyglandular adenomatosis, endocrine involvement.