Syndromes in Ophthalmology

Dr. Niranjan Karthik Senthil Kumar
Published Online: April 1st, 2021 | Read Time: 106 minutes, 4 seconds

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.

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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.


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 palpebralfissures.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 endothelialdystrophy, retinal detachment, leakage inperipheral retina and macula, iris pigment loss,uveitis, vitreous in anterior chamber, retinalholes, band keratopathy, glaucoma, iritis.

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

Ocular features include exophthalmos, swelling of eyelids and discolorationof 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 evertingupper lid (Gifford sign), convergence weakness(Möbius), impaired fixation on extreme lateralgaze (Suker), possible external ophthalmoplegia(Ballet), Dalrymple sign (staring appearance),tearing, photophobia, epiphora, prolapse of lacrimalgland, neuroretinal edema, tortuous vessels,papilledema and papillitis, anisocoria, keratitis,increased intraocular pressure, increasedintraocular pressure on upgaze, decreased visualacuity, enlargement of the extraocular muscles,increased volume of the extraorbital fat, superiorrectus muscle enlargement, decreased venousoutflow.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 totalblindness, fat deposition in the retina withgradual development of pigment disturbancesresembling retinitis pigmentosa, progressive primaryoptic atrophy, granular pigmentary changeof macula, there is clinical evidence supportingthe idea that the primary lesion of the retina isin the inner layers.Systemic features include mental disturbances, convulsions (later), apathy,irritability, ataxia, upper and lower motor neuronpalsies, rigidity, complete paralysis and dementiain terminal stage, hypertonus, death fromintercurrent infection.

BBB Syndrome (Hypertelorism-Hypospadias Syndrome, Opitz Syndrome)

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

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

Ocular features include muscle palsies (occasional), nystagmus (occasional),conjunctivitis, hypopyon, iritis, recurrentuveitis, keratoconjunctivitis sicca, keratitis, vitreoushemorrhages, thrombophlebitis retinal veins(occasional), retinal hemorrhages, optic neuritis(occasional), macular edema, optic nerveatrophy, retinitis, secondary glaucoma, retinalvasculitis, disk edema, panophthalmitis, opticneuropathy, skin lesions, posterior uveitis, andsystemic complications have been associatedwith loss of vision with this disorder, cornealimmune ring opacity. Systemic features are aphthous lesions of mucous membranes of themouth and genitalia, cerebellar signs, convulsions,paraplegia, skin erythema (multiforme,bullosum), arthritis, urethritis, glossitis, recurrentfever.

Behr Syndrome (Optic Atrophy Ataxia Syndrome)

Ocular features are Nystagmus, central scotoma, severe progressivetemporal atrophy of the optic nerve, bilateralretrobulbar neuritis, horizontal nystagmus. Systemic features include Pyramidal tract signs (increased tendon reflexesand positive Babinski sign), ataxia anddisturbance of coordination, mental deficiency,vesical sphincter muscle weakness, muscularhypertonia, 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 anotherwise normal vitreous, creamy, flat white,or shiny when viewed with an ophthalmoscope,may interfere with accurate measurement of axiallength.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 blepharophimosisbecause of ocular pemphigus or trachoma,ectropion, epicanthus inversus, lacrimal punctadisplacement, ptosis, telecanthus, optic nervecoloboma, angle dysgenesis, optic nerve hypoplasia,amblyopia, strabismus. Systemic features includelow-set ears, low nasal bridge.

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

Ocular features are bilateral or monocular convergence where theadducted eye(s) cannot be abducted to themidline, if monocular, it may alternate, esotropiaincreases with prolonged fixation, head turn,nystagmus.

Bogorad Syndrome (Crocodile Tear Syndrome,Paroxysmal Lacrimation Syndrome)

Ocular features include unilateral lacrimation while eating or drinkingdue to misdirected nerve fiber regeneration. Systemic features include excessive salivation (occasionally), diffuse facialmuscle response, or facial contracture withlacrimation.

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,.


Canalis Opticus Syndrome

Ocular features are spontaneous unilateral or bilateral, reversible orirreversible amaurosis, absent pupil reaction incases of complete blindness, spontaneous visualrecovery 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 underactionof 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 openingby the optic and displacement of the posteriorcapsule 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 ofcolor vision, retinal detachment, optic atrophy,ring-like scotoma, night blindness, retinal phlebitis.Systemic features are carcinoma with or without metastasis to any partof the body.


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 (GarlandSyndrome, Spillan-Scott Syndrome)

Various ocular features found are greatly reduced vision, particularly near vision,increasing over weeks or months but rarelyprogressing to complete blindness, relative orabsolute central or paracentral scotomata, bitemporalpallor of the disks, optic neuropathy.Systemic features includeincomplete bilateral deafness, never proceedingto complete deafness, tinnitus, numbness andtingling in the legs, rarely in the hands, unsteadinessof gait, abnormal tendon reflexes (bothhyper 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 andknees, 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 MalformationAssociation, Genital Hypoplasia, Heart Disease, Multiple CongenitalAnomalies Syndrome, Retarded Growth)

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

Cockayne Syndrome (Dwarfism With Retinal Atrophy AndDeafness, Mickey Mouse Syndrome)

Ocular features are enophthalmos, cataracts, pigmentary degenerationof 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 longlimbs, large hands and large feet, kyphosis,deformed limbs, thickened skull, intracranialcalcifications, mental retardation, prognathism,deafness (often partial), precociously senileappearance, sensitivity to sunlight, with skinpigmentation 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, depressionof gaze, ocular synkinesis.Systemic features include hand-wrist pronation, ulnar abduction, headache,fatigue, various types of head and shoulderdistress, carpal tunnel syndrome.

Congenital Dyslexia Syndrome (Attention Deficit Disorder,Congenital Word Blindness Congenital Word Blindness Of Hermann,Developmental Dyslexia Of Critchley, Dyslexia Syndrome, MinimalBrain 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 decreasedvisual acuity and contrast sensitivity.Systemic features are general clumsiness, disorientation (time-space,right-left), behavioral changes, lack of integrationof visual and auditory stimuli.

Congenital Vertical Retraction Syndrome

Ocular features include aberrant regeneration of the oculomotor nerve,concurrent protective eyelid closure, congenitalalterations in the extraocular muscle, its insertion,and its peripheral innervation, nystagmusretractorius, surgical or traumatic rearrangementof 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 withsyndactyly of digits 3 and 4, syndactyly of toes 2and 5, bifid uvula, slight deviation of the terminalphalanges of the third fingers, radial deviation ofthe terminal phalanx of the right fourth finger,short first toe and long second toe, short firstmetacarpal, extra bone in the capitate-hamatecomplex, small thorax, bowed limbs with absentfibula, mild frontal bossing, conductive hearingimpairment, flat facies, broad nasal base, wavyirregular clavicles and ribs, widely spaced eyes,prominent forehead.

Criswick-Schepens Syndrome(Familial Exudative Vitreoretinopathy)

Ocular features include posterior vitreous detachment of organizedmembranes of vitreous, snowflake-like opacitiesof vitreous, heterotropia of macula, subretinalexudates, retinal detachment, degenerative retinalchanges, retinal hemorrhage, retinal folds,enophthalmos, phthisis, intraretinal exudate,vitreous hemorrhage, amblyopia, falciform retinalfold. 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 partiallyor completely missing, skin from foreheadcompletely covers one or both eyes, but the globescan be palpated beneath the skin, in unilateralcases, the fellow eye may present lid coloboma,buphthalmos, conjunctival sac partially or totallyobliterated, absence of trabeculae, Schlemm canaland ciliary muscles, cornea is differentiated fromthe sclera, lens anomalies from complete absenceto hypoplasia, dislocation and calcification.Systemic features are syndactyly (finger, toes) (about 40%), colobomaof alae nasi and nostrils, urogenital abnormalities,including pseudohermaphroditism and renalhypoplasia, abnormal, bizarre hairline, narrowexternal auditory meatus and malformation ofossicles, cleft lip and palate may occur, atresia orhypoplasia of larynx in some cases, hoarse voice,dysplastic pinna, meatal stenosis, glottic web andsubglottic stenosis.

Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome (CHANDS)

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


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 orrestricted function of the inferior rectus and/orinferior oblique muscles, orbital emphysema.Systemic features include severe pain in superior maxillary region,numbness in area of first and second branchesof trigeminal nerve, nausea, and vomiting.

Dental-Ocular-Cutaneous Syndrome

Ocular features are entropion lower eyelids, glaucoma (juvenile type).Systemic features includeunusual upper lip with lack of “cupid’s bow” andthickening and widening of the philtrum, syndactyly,cutaneous hyperpigmentation overlyingthe interphalangeal joints, clinodactyly, singleconical roots in all primary teeth and permanentfirst molars, scant body hair, horizontal ridgingof 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 regionwith some accumulations and accompanied bysmall 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, diffusepigment epithelial degeneration, endophthalmitis,nematode in the fundus, the pathognomonicfinding in DUSN is the presence of a motileintraocular nematode.Systemic features include weight loss, lack of appetite, cough, fever, pulmonaryinfiltration, hepatomegaly, leukocytosis,persistent eosinophilia.

Dollinger-Bielschowsky Syndrome [Bielschowsky-JanskyDisease, Infantile Amaurotic Familial Idiocy (Late), InfantileGanglioside 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 becomingcalcified 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 iscomplete, retraction of the globe with attemptedadduction varies from 1 to 10 mm, convergenceinsufficiency, heterochromia irides, left eye ismore 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 broadforehead, slightly anteverted nose, and flat nasalbridge, slightly wide-spaced teeth and higharchedpalate, slightly receding chin, slightlywide-set nipples, two phalanges in both fifthfingers, impaired speech.


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 eversionof the upper lid, ptosis, epicanthal folds, hypotonyof extraocular muscles, strabismus, microcornea,thinning of cornea with keratoconus, thinning ofsclera (blue sclera), subluxation of lens, angioidstreaks, chorioretinal hemorrhages, retinitisproliferans with secondary detachment, maculardegeneration, myopia, ruptured globe after minortrauma, 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, articularmanifestations include excessive articular laxityand luxations, hypermobile joints.

Eldridge Syndrome

Ocular features are Myopia, onset between the ages of 4 and6 years, increased retinal translucency, temporalcrescents, mild electroretinographic abnormalities.Severe myopia, Systemic features include sensorineural hearing loss, lowintelligence, 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 herpessimplex infection of the cornea, “loose” epitheliumis removed from the underlying Bowman’smembrane mechanically by lid blinking, defectsare irregular in shape and stain positively withfluorescein dye, underlying corneal stroma usuallyshows some edema, pain upon opening eyesin the morning.Systemic features include mild fever, occasionally herpetic skin lesions.


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, antimongoloidobliquity 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 cholesterolraised.

Foix Syndrome (Cavernous Sinus-Nasopharyngeal TumorSyndrome, Cavernous Sinus Thrombosis, Cavernous Sinus NeuralgiaSyndrome, Cavernous Sinus Syndrome, Godtfredsen Syndrome,Hypophyseal-Sphenoidal Syndrome)

Ocular features include proptosis, severe ocular and periorbital pain, lidedema, 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 manifestationsof sepsis and paranasal sinus, local skin infectionsare 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 conjugatemovement to the side of the lesion, abduction, orhorizontal gaze deficit.Systemic features include peripheral facial palsy, contralateral hemiplegia,headache, ipsilateral: facial weakness, loss oftaste, facial analgesia, Homer syndrome, anddeafness.

Franceschetti Disease (Fundus Flavimaculatus)

Ocular features includeanirregular yellowish deposit in and around themacula lutea forming a garland, impairedcentral vision with intact peripheral retinalfunction, bilateral retinal dystrophy, progressivesubretinal fibrosis, chorioretinal punched-outspots in the posterior pole and midperipheryof 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, MandibulofacialDysostosis, Mandibulofacial Syndrome, Treacher Collins Syndrome,Oculovertebral Syndrome, Treacher Collins-FranceschettiSyndrome, 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, underdevelopedorbicularis oculi muscle, cataract,optic disk hypoplasia.Systemic features are fish-like face with sunken cheekbones, recedingchin, and large, wide-mouth, absent or malformedexternal ears with auricular appendages,high palate, and possible harelip, hypoplasticzygomatic arch with the absence of normal malareminences, 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, cicatricialchanges in conjunctiva and cornea, conjunctivitis,symblepharon, corneal ulceration and possibleperforation.Systemic features include inflammation of mucous membrane with ulcerations,general epidermolysis, cicatricial changes,especially of orifices.


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, retardedbone age, premature aged appearance, hypogonadism,hepatomegaly, muscular body build.

Gardner’s Syndrome

Ocular features are exophthalmos, congenital hypertrophy of retinalpigment epithelium (RPE), multiple lesions ofthe eye, bilateral occurrence, orbital osteoma,highly pleomorphic pigmentation, unilateralor bilateral retinal lesions, pilomatrixoma-likeepidermal cysts, presence of pigmented funduslesions appears to cluster within families. Systemic features include intestinal polyps, dermoid tumors, neurofibrous osteomatosis, colon cancer, supernumerary teeth.

General Fibrosis Syndrome (Congenital Enophthalmos WithOcular 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-winkingand synergistic divergence in attempted rightgaze.

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 andeyelid, antimongolian slant of lid fissure, epibulbardermoid, 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, malarhypoplasia, micrognathia and macrostomia,auricular appendices (single or multiple), multiplevertebral anomalies, preauricular fistulas, mentalretardation.

Goldmann–Favre disease

Systemic features areautosomal 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 theuse of Intralase technology, starts 6–8 weekspostoperatively and resolves by 4–5 months.

Gorlin’s syndrome

Systemic features include multiple basal cell carcinomas, jaw cysts, skeletalabnormalities, 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 andbrows, defects of the palpebral fissure, bilateralsixth nerve paralysis, esotropia, astigmatism,optic atrophy by tension on the opticnerve, strabismus.Systemic features arethat skull may show mild malformations, includingbitemporal eminences and decreased anteroposteriordiameter, harelip, high-arched palate,cleft palate, broad and flat nasal root, mentalimpairment.

Gronblad–Strandberg syndrome

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

Gruner-Bertolotti Syndrome

Ocular features include hemianopia, lid retraction, ptosis, extraocularmuscle paralysis, papilledema.Systemic features include vertigo, hemiplegia, sensory disturbances, braintumors.


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

Ocular features are horizontal nystagmus (10%), cataract, retinitispigmentosa, retinal atrophy, narrow retinalvessels, optic atrophy, keratoconusSystemic features include congenital deafness (complete or at least severeauditory impairment), mental deficiency (25%),vestibulo-cerebellar ataxia (90%), schizophrenia-likesymptoms (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 normalsensitivity 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 airin the auditory canal is compressed, interstitialkeratitis, disseminated syphilitic chorioretinitismay be present.Systemic features include vertigo, fistula in the labyrinth, deafness, otherclinical manifestations of congenital syphilismay be present, such as “saddle” nose andHutchinson 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 conjunctivalvessels, scleral icterus, vitreous hemorrhages,cataract, retinal hemorrhages, exudatesand neovascularization, retinitis proliferans,microaneurysms, thrombosis of retinal venules,retinal vascular sheathing, central vein occlusion,angioid streaks, retinopathy with “blacksunburst sign” in patients with SS hemoglobin,“sea fan sign” in patients with SC hemoglobin,comma signs of conjunctiva, fan-shaped neovascularizationof iris, sector ischemic atrophyof iris, optic atrophy, the white cotton massof vitreous, retinal holes, color vision defects,central retinal artery obstruction, branch retinalartery obstruction, white without pressure,venous tortuosity, sickling maculopathy.Systemic features include severe anemia with hemolytic crises, bone andjoint aches, hemarthrosis, jaundice, hepatosplenomegaly.

Hollenhorst Syndrome (Chorioretinal Infarction Syndrome)

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

Horner Syndrome (Bernard-Horner Syndrome, CervicalSympathetic Paralysis Syndrome, Claude-Bernard-Horner Syndrome,Horner Oculopupillary Syndrome)

Ocular features include enophthalmos, ptosis or narrowing of palpebralfissure, ocular hypotony, miosis (degree of miosisdepends on site of lesion, most pronouncedwhen roots of cranial nerves VII and VIII andfirst thoracic nerve are involved), hypochromicheterochromia (children more than adults), pupildoes not dilate with cocaine.Systemic features are anhidrosis on ipsilateral side of face and neck,transitory rise in facial temperature, hemifacialatrophy, may result from a variety of conditions,including cluster headache, parasellar neoplasmsor aneurysms, internal carotid dissection orocclusion, and Tolosa-Hunt syndrome.

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

Ocular features are diminished lacrimation, absence of motor cornealreflex on the affected side, whereas consensual reflexof the noninvolved eye remains normal.Systemic features are herpes zoster lesions of the external ear and oralmucosa, severe pain in the area of external auditorymeatus and pinna, diminished hearing, tinnitus,vertigo, facial palsy, diminution or total loss ofsuperficial and deep facial reflexes, zoster lesionsmay involve the scalp, face, and neck, hoarseness,absence of auricular lesions has been reported,progressive dementia, extensive frontal whitematter 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 thefundus, corneal asymmetry, pannus, atrophicirides with irregular pupillary margins, cataract,retinal detachment.Systemic features are cutaneous manifestations consisting of macularhypopigmented whorls, streaks and patchesin a bilateral or unilateral distribution affectingalmost any portion of the body surface, 50% haveassociated noncutaneous abnormalities, includingcentral nervous system dysfunction (seizure,delayed development) and musculoskeletal anomalies.


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 peripheralanterior synechiae, multiple iris nodules, ectopicDescemet’s membrane, corneal edema, stromaliris atrophy, iris pigment epithelial atrophy,ectropion uveae, ectopic pupil, keratoconus,herpes simplex virus DNA has been detected inpatients with iridocorneal endothelial syndromefrom corneal specimens.Systemic features include Glasslike membrane covering the anterior irissurface, corneal endothelial degeneration andaccompanying ectopic endothelial membranesare responsible for occlusion of the filtrationmeshwork 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.


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

Ocular features are granulomatous uveitis, iritis, VI nerve palsy.Systemic features are granulomatous synovitis, corticosteroid-responsivehearing loss, boggy polysynovitis, boutonneusedeformities, granulomatous arthritis, skininvolvement

Joubert Syndrome (Familial Cerebellar Vermis Agenesis)

Ocular features include choroidal coloboma, nystagmus, ocular fibrosis,telecanthus.Systemic features include episodic hyperpnea, apnea, ataxia, psychomotorretardation, rhythmic protrusion of tongue, mentalretardation, micrognathia, complex cardiacmalformation, 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 withresulting impairment of related function, i.e.dysphagia, loss of taste on the posterior third ofthe tongue and nasal regurgitation, anhidrosis,paralysis of the sternocleidomastoid muscleand part of the trapezium (upper portion),hoarseness, tachycardia, dysarthria, weight loss.


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, monodactyloushands.

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, shortstature, mental retardation, inguinal hernia,undescended testes, tight heel cords, vertebralanomalies, delayed bone age, double ureters,cone-shaped epiphyses, stubby limbs and digits,limitation of extension and supination of theelbows, brachydactyly, fifth finger clinodactyly,frequent urinary tract infections, prominentnose, mild maxillary hypoplasia, low posteriorhairline, short, broad feet with bilateral pescavus, bilateral ureteric reflux.

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

Ocular features include ptosis, orbicularis muscle weakness, ocularmyopathy, diplopia progressing to bilateralmyopathic ophthalmoplegia, may be associatedwith pigmentary retinopathy and heart block(see Kearns-Sayre syndrome).Systemic features include progressive muscular dystrophy in which facialmuscles may be involved, occasionally, hereditaryataxia, 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 appearanceand sometimes with some lateral nystagmiccomponents.Systemic features are sporadic, jerky movements of head, trunk andlimbs, usually more pronounced when the childis 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 blindnessassociated with progressive dementia.Systemic features include severe blistering in sunlight, no increase inweight and height after erythema subsides at age5–6 years, mental age does not progress beyondthe level of imbeciles, progressive degenerativedementia occurs during or immediately afteradolescence.

Knobloch Syndrome

Ocular features are high myopia, retinal detachment, vitreoretinaldegeneration, persistent papillary membrane,posterior vitreous detachment, retinochoroidalstaphylomas.Systemic features include occipital encephalocele, normal intelligence,congenital midline scalp defect, unusual plantarcreases

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, anteriorand posterior synechiae, scleral atrophy, persistentremnants of hyaloids artery, intraocularhemorrhages and exudates, cyclitic membranes,cataracts, retinal hypoplasia and hyperplasia,choroidal and retinal malformation, retinal glialmembranes, retinal detachment, choroidal atrophy,optic nerve malformation, optic atrophy.Systemic features are congenital cerebral dysplasia, hydrocephalus ormicrocephaly, mental retardation, heterotopia.


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 bodyfat and delayed sexual development.

Larsen Syndrome

Ocular features are hypertelorism, bilateral chronic keratitis, cornealneovascularization, lower lid entropion.Systemic features include frontal bossing, depressed nasal bridge, flat face,flat and broad thumbs, skeletal dysplasia withmultiple joint dislocations, unusual faces, long,cylindrical fingers, spatulate thumbs, dentalabnormalities, cardiac defects, hydrocephalus,laryngotracheomalacia, dislocation of the cervicalspine, tracheomalacias, heart disease, severerespiratory infection, clubfeet, multiple jointdeformities, 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 fasciculationsof muscles spontaneously elicited bymechanical stimulation or cold.Systemic features include tremors of head and limbs, myoclonic movementsof extremities and trunk, hypospadias,abnormalities of teeth, facial asymmetry, localizededema.

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, bluesclera, 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, persistentpupillary membrane.Systemic features include short rib polydactyly, cleft lip, cleft palate, narrowthorax, short tibia, hypoplastic epiglottis, lung, and visceral abnormalities.


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

Ocular features are unilateral congenital ptosis in more than 90% ofcases, 10% have spontaneous onset, usually inolder persons, lid elevates rapidly when the mouth isopened or mandible is moved to one or the otherside, the left eye seems to be more frequently affectedthan 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 jawthrusts.

Marshall-Smith Syndrome

Ocular features are hypertelorism, protuberant eyes with shalloworbits.Systemic features include feeding and respiratory difficulties, developmentaldelay, advanced bone age, characteristicfacies.

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, pigmentaryretinopathy.Systemic features include migraines, sensorineural hearing loss, grand malseizures, 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, irisanomalies (eccentric pupil, changes in normaliris texture, remnants of the pupillary membranealong iris margins), microcornea, hypertelorism,myopia, hyperopia, keratoconus.Systemic features include thin, small nose with anteverted nostrils andhypoplastic alae, syndactyly, camptodactyly(fourth and fifth fingers), anomalies of middlephalanx of fifth finger and toe, hypoplasticteeth, wide mandible, alveolar ridge, sparse hairgrowth, visceral malformations.

Micropsia Syndrome (Lilliputian Syndrome)

Ocular features are Illusions, with misjudging of distance, position, and size of known objects (regarded as apsychovisual phenomenon).Systemic features include fixed hallucinations or dreams are expressions ofillusions 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 rotationalnystagmus, strabismus, bushy eyebrows,ptosis.Systemic features include growth failure, flexion contracture of the elbows,dislocation of the head of the radii, mentalretardation, small pointed nose with a depressedroot, low hairline, external ear defects, digitaldefects, 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 byocular featureslike acute external ophthalmoplegia, ataxia, and areflexia.

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

Ocular features are glaucoma, bilateral aniridia (aniridia often notcomplete, with remnants of iris root present asrudimentary forms), cataract.Systemic features include Wilms tumor, mental retardation with microcephaly,genital malformations with cryptorchidismand hypospadias, hemihypertrophy, kidneyanomalies (horseshoe kidney).

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

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

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

Ocular features are proptosis, ptosis, weakness of abductor muscles,normal convergence, limitation to internalrotation in lateral movements, esotropia. Systemic features include facial diplegia, deafness, loss of vestibularresponses, 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 simultaneousprism and cover test, central scotoma,stereopsis, good fusional vergences found inpatients with congenital esotropia, unilateralsyphilitic optic perineuritis (rare), congenitalesotropia (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 developmentof anterior chamber (anterior chambercleavage syndrome), remnants of hyaloid system,chorioretinal pigment surrounding opticdisk, narrow branches of retinal arteries at edgeof optic disk, retinal exudates and detachment,subretinal hemorrhages and retinal neovascularization,enlarged pink optic disk, funnel-shapedwith a central white fluffy dot, nerve head surroundedby elevated annulus of chorioretinalpigment, unilateralSystemic features include midline cranial facial defects such as hypertelorism,cleft lip/palate, basal encephalocele,agenesis of corpus callosum, sphenoid encephaloceledefects in the floor of the sella turcica,cranial, facial and neurologic associations, pituitarydwarfism, association with the CHARGEsyndrome.

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, yellowishretinal dots and scattered pigment dispersionin clusters (especially in the midperiphery),drusen of Bruch membrane, hypoplasia ofchoriocapillaries (diagnostic sign).

Mulvihill-Smith Syndrome

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


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, causinggradual visual field constriction.

Nematode Ophthalmia Syndrome (Toxocariasis, Visceral Larva Migrans Syndrome)

Ocular features are leukocoria, uveitis, cataract, marked vitreousreaction with large floaters, choroiditis, large,cystlike white masses extending into vitreous,optic neuritis, papillitis, strabismus, hemorrhagic,exudative or granulomatous retinitis, retinaldetachment, endophthalmitis, larvae present inthe 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, rockerbottomfeet, 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-OromandibularDystonia, Chronic Hereditary Edema, Chronic HereditaryTrophedema, Chronic Trophedema, Chronic Hereditary Lymphedema,Congenital Trophedema, Elephantiasis Arabum Congenita,Elephantiasis Congenita Hereditaria, Familial HereditaryEdema, Hereditary Edema, Idiopathic Hereditary Lymphedema,Meige Disease, Meige-Milroy Syndrome, Milroy Disease, NonnemilroySyndrome, Oromandibular Dystonia, PseudoedematousHypodermal Hypertrophy, Pseudoelephantiasis Neuroarthritica,Tropholymphedema, Trophoneurosis)

Ocular features include lid and conjunctival edema, blepharoptosis,distichiasis, strabismus, buphthalmos, ectropion.Systemic features include lymphedema, mandibulofacial dysostosis, unilateralor bilateral edema of ankle ascending tothe knee and eventually above, rough, pigmentedskin 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 frequentlyupward, combined with some degree ofinternal 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 patientswith this syndrome prefer to fixate with one eye,but others show alternating fixation.Systemic features include abnormal head position.


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, painfulfeet with erythema, exfoliation and ulceration,burning, itching, mental depression, dizziness,oral mucosa becomes pale and macerated withfissuring of skin.

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

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

Oculorenocerebellar Syndrome (Orc Syndrome)

Ocular features include progressive tapetoretinal degeneration with lossof retinal vessels.Systemic features include mental retardation, continuous jerky movements,spastic diplegia, glomerulopathy with most renalglomeruli 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, OpticAtrophy, Congenital, Optic Atrophy, Kjer-Type,Oak Syndrome (Optic Atrophy, Kjer Type)

Ocular features include central scotoma, color defects, choroidalsclerosis, optic neuritis, temporal optic atrophy,aggregation of retinal pigment epithelium,tortuosity of retinal arteries and veins, reducedcentral vision, retinal lesions, may present withmild-to-moderate reduction of visual acuity with50% of patients having vision between 20/60 and20/200, visual field defect associated may be acentral, paracentral or cecocentral scotoma.Systemic features arekeratosis pilaris on the extremities, approximately10% of patients present with mental abnormalitiesand approximately 80% of patients with neuralhearing loss.

Optic Disk Traction Syndrome

Systemic features include posterior vitreous detachment or vitreopapillaryfibrous membrane may be associated with retinalsurgery.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


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 thepalpebral fissure, miosis.Systemic features include pulmonary apical tumor, severe shoulder pain,paresthesia, pain and paresis of the homolateralarm 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, cornealhyperesthesia, 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, ocularhypertension, iris translucency, abnormalnumber of iris processes, insertion of irisanterior to scleral spur, pigmentation of posteriortrabecular meshwork, grades 3–4, Systemic features include krukenbergspindles, presence of pigmentation on equatorialborder of lens capsule, glaucomatous cuppingand myopic optic nerve changes.

Pillay Syndrome (Ophthalmomandibulomelic Dysplasia)

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

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

Ocular features include reduced tear formation, pale conjunctiva, dryeyes, retinal hemorrhages, papilledema.Systemic features include dysphagia for solid food with main difficultiesoriginating in the upper portion of the esophagus,glossitis and gastritis, anemia, atrophy ofmucous 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 cystoidmacular edema.Systemic features are hyperpigmentaion and lower extremity edema,hypertrichosis, angiomas, motor deficiency, deeptendon 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 duringepisodes of high intraocular tension, highintraocular pressure (unilateral), glaucomatocycliticcrisis (benign and usually unilateral),enlarged pupil, anisocoria, absence of ciliaryor conjunctival injection, only trace of aqueousflare, no posterior synechiae, chamber angleopen, heterochroSystemic features include allergy, associated with gastrointestinal disease(peptic ulcers).

Posterior Iris Chafing Syndrome

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

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

Ocular features include nystagmus, nuclear ophthalmoplegia, visual hallucinations,partial cerebral blindness (predominantdefects in the sphere of psychic elaborationrather 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 foldsextending down the cheeks, antimongoloid slantof palpebral fissure.Systemic features include flat bridge of the nose, low-set ears, facialdeformities,micrognathia, pulmonary hypoplasia,cystic dysplasia of kidney to agenesis, oligohydramnios,clubbing of hands and feet, spinabifida, prominent infracanthal folds, flattenedbeaked nose, creased skin, positional deformitiesof 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 withboth internal carotid arteries involved, memoryloss, muteness, localized numbness, cryingspells, catatonic states and episodes, staring,seizures.

Pseudo-Ophthalmoplegia Syndrome (Roth-Bielschowsky Syndrome)

Ocular features include paralysis of lateral gaze in one direction, vestibularnystagmus in which the fast phase is absent onthe 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 entirefundus, cotton-wool exudates, mainly posterioraspect, retinal edema, posterior and macularserous detachment, venous congestion andengorgement, 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.


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

Ocular features include ipsilateral abducens palsy, paralysis of lateralconjugate 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, opticneuritis, papilledema, retinal detachment, bluesclera, 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 replacementwith 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 acidA-hydrolase results in accumulation of phytanic acid, , ichthyosis, deafness, cardiomyopathy, ataxia.Riley–Day syndrome (familial dysautonomia) autosomal recessive, sensory neuropathy, autonomic dysfunction/crises, morecommon 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 ofretinal 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, hyperextensiblejoints, scoliosis, arachnodactyly,hypogonadism.

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

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

Reye Syndrome (Acute Encephalopathy Syndrome)

Ocular features include cortical blindness, dilated pupils with absent orsluggish reaction to light, papilledema.Systemic features include respiratory infections with recovery between3 and 21 days, vomiting after recovery frominfection,dyspnea, hypotonia, coma, convulsions,fever, flexion of elbows and hands.

Rollet Syndrome (Orbital Apex-Sphenoidal Syndrome)

Ocular features include exophthalmos, ptosis, hyperesthesia or anesthesiaof the upper lid, ophthalmoplegia (partialor complete), wide pupil with loss of reactionon accommodation, neuralgic pain in the regionof the ophthalmic branch of cranial nerve V,anesthesia of the cornea, papilledema, opticneuritis, optic atrophy, diplopia, herpes zosterophthalmicus.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 JuvenileCataract, 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), corneallesions, retinal hyperpigmentation, keratoconus,strabismus, epibulbar dermoids.Systemic features are poikiloderma, hypogonadism, hypomenorrhea,head deformity (enlarged with depressed nasalbridge as well as microcephaly), small stature,with short or malformed distal phalanges, aplasiacutis congenita (congenital absence of skin inone 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 centraldistribution of lesions are quite distinguishablefrom retinitis pigmentosa, retinopathy is not progressiveand has little, if any, effect on vision, waxyatrophy of optic disk, conjunctivitis, megalocorneaor microcornea, buphthalmos, microphthalmos,uveitis, iris atrophy, spherophakia, strabismusSystemic features include LOw-birth-weight, diarrhea, pneumonia, urinaryinfection, 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, heartmurmurs, anomalies of size, shape, and position of ears, dwarfism, cryptorchidism.

Russell Syndrome

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


Sabin-Feldman Syndrome (Chorioretinitis)

Ocular features include Microphthalmia, strabismus, fixed pupils, poste riorlenticonus, microcornea, chorioretinitis or atrophicdegenerative chorioretinal changes, optic atrophy.Systemic features arecerebral 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, coneshapedepiphyses ofhands 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 withstretching of the neck (more pronounced duringeating and reading), epigastric pain associatedwith 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 sightthreateningcomplication,syndrome presents 1–5 days after LASIK, affectedpatients often complain of decreased or cloudyvision, foreign body sensation, and photophobia,symptoms may be mild or severe, cause of theinterface debris is unknown, but microkeratomematerial 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, shorttransverse diameter of the head, increasedintracranial pressure, flat forehead with absentsuperciliary arches, prominent nose, mentalretardation.

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

Ocular features are orbital granulomatous mass, bony defects,cutaneous and subcutaneous nodules, myogenicpalsy, lacrimal gland adenopathy, decreased tearOcular Syndromes and Systemic Diseases 707formation, secondary glaucoma, granulomatousuveitis with iris nodules, cells, and flare, muttonfat keratitic precipitates, keratitis sicca, vitreousfloaters, bandshapedkeratitis, complicatedcataract, inflammatory retinal exudates, “candlewax drippings”, optic nerve atrophy, neuritis,eyelid nodules, ocular nerve enlargement(granuloma).Systemic features are lymphadenopathy, hilar nodes, fatigue, cystic,punched outor reticulated changes in smallbones (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 cholesterolcrystal deposition, midperipheral, panstromalhaze and arcus lipoides.

Schomberg Disease (Subconjunctival Hemorrhage)

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

Schwartz Syndrome (Retinal Detachment)

Ocular features are secondary openangleglaucoma, retinal detachment,uveitis, myopia, blepharophimosis, longeyelashes, microcornea.Systemic features are small stature, myotonia, expressionless facies,joint limitation in hips, dystrophy of epiphysealcartilage, vertical shortness of vertebrae, shortneck, 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, shortstature, mental retardation, hepatitis.

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

Ocular features include external ophthalmoplegia, iris atrophy, ocularsympathetic and parasympathetic insufficiency(alternating Horner syndrome, cholinergic supersensitivity,decreased lacrimation, and cornealhypesthesia).Systemic features are orthostatic hypotension, rigidity, tremor, adiadochokinesia,wasting of muscles, mental retardation,impotence, dysphagia, bilateral vocalcord 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 duringepisodes of pain.Systemic features include unilateral facial pain, mainly root of nose, orbit,and mastoid area, episodes of headaches, nasalcongestion.

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 fixationintensifies 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, MeningocutaneousSyndrome, Neuro-Oculocutaneous Angiomatosis, VascularEncephalotrigeminal Syndrome)

Ocular features are unilateral hydrophthalmos, secondary glaucoma(late) conjunctival angiomata (telangiectases),iris decoloration, nevoid marks or vasculardilation of the episclera, glioma, serous retinaldetachment, choroidal angiomata, deep anteriorchamber angle, port-wine stain of eyelid,buphthalmos, optic nerve cupping, anisometropia,hemianopsia, increased corneal diameter,enophthalmos, exophthalmos, optic atrophy,choroidal hemangioma, anterior chamber anglevascularization.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 autosomaldominant (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.


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 cornealstroma, wasting of orbicularis oculi muscle.Systemic features include maculopapular rash, orange-yellow stripedtonsils, hepatosplenomegaly, lymphadenopathy,intermittent diarrhea, bilateral motor weakness.

Tapetal-Like Reflex Syndrome

Ocular features are ring scotoma, discrete bright yellow spots inposterior polar region deep to the retinal vessels,tapetal-like reflex and retinitis pigmentosa maybe 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, disarrangedand uncoordinated gaze, severe intraocularhemorrhage,preretinal hemorrhages, peripapillaryhemorrhages, papilledema secondaryto optic nerve sheath hemorrhages, pigmentarychanges in macula and retina, preretinal membraneformation,vitreous detachment, amblyopia,anisocoria, bilateral retinal detachmentshave been associatedwith this disorder, epiretinalmembranes (sequelae).Systemic features include Sudden unconsciousness, elevated cerebrospinalfluid pressure.

Tolosa-Hunt Syndrome (Painful Ophthalmoplegia)

Ocular features are Steadily “growing” retro-orbital pain, ptosis,involvementof cranial nerves III, IV, VI, andfirst division of V, scintillating scotomata, sluggishpupil reaction to light, corneal sensitivitydiminished,optic neuritis.Systemic features include Inflammatory lesions of cavernous sinus.

Transient Light Sensitivity Syndrome (Uveitis)

Ocular features are transient postoperative photosensitivity.

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

Ocular features are nystagmus or Nystagmoid ocular movements, lower lid colobomas, dermoidsSystemic 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, myopathicchanges, 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.


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, chorioretinalcoloboma.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 ganglioncell and inner nuclear layers of the retina,either intracellular or extracellular, in inner plexiform and nerve fiber layers, and in theoptic nerve.Systemic features are major epilepsy, widespread myoclonus, dementia,tetraplegia, pseudobulbar palsy, generalizedtonic-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, retinitispigmentosa with dotted, fine pigmentation inmidperiphery, bone-corpuscle configured pigmentdeposits mainly along the vessels towardthe periphery, yellow-white dots in outer retinaand choroid, poor night vision.Systemic features include deaf-mutism, however, deafness is not alwayscomplete, 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.


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 andzygomatic arch, flat, wide nose, arched palate,skeletal anomalies with short, thick phalangealjoints, finger and toes appear infantile, flatnasal bridge, thickened cheeks, deformed ears,micrognathia.

Van Bogaert-Scherer-Epstein Syndrome (FamilialHypercholesterolemia Syndrome, Primary Hyperlipidemia)

Ocular features include xanthelasma, arcus juveniles of the cornea, lipidkeratopathy, cataract, retinopathy with yellowishdeposits and cholesterol crystals have beenreported but are more rare manifestations.Systemic features are xanthelasmatosis of skin and tendons, progressiveatherosclerosis, coronary insufficiency, cardiacinfarcts, dementia, progressive ataxia, cerebralinfarction, 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 ofligaments, dental defects, developmentaldelay.

Velocardiofacial Syndrome (Di-George Syndrome)

Ocular features are retinal vascular tortuosity, posterior embryotoxon,narrow palpebral fissures, suborbitaldiscoloration, small optic nerves, iris nodules,cataracts, prominent corneal nerves, strabismus,hyperopia, myopia, astigmatism, anisometropicastigmatism.Systemic features are cleft palate, learning disability, ventricular septaldefect with or without the tetralogy of Fallot, rightsidedaortic arch, prominent nose, retrognathia,helical thickening, small auricles, auricularprotrusion, microcephaly, small stature, inguinalor umbilical hernia, scoliosis, slender handsand digits, small vermis, small posterior fossa,developmental delay, heart malformations, lateonsetpsychosis.

Visual Disorientation Syndrome (Riddoch Syndrome)

Ocular features include visual agnosia, stereoscopic vision and centralvisionunimpaired, homonymous quadrantanopsia.Systemic features are contralateral numbness and tingling, loss ofstatic or postural sensation when postcentralconvolution affected.

Vitreous Tug Syndrome (Vitreous Wick Syndrome)

Ocular features are sensation of light flashes due to vitreous pullon the retina, irregular pupil, vitreous strandspassing through pupil to attach to corneal woundor scar, loss of foveal reflex on ophthalmoscopicexamination, circumscribed retinal edema, occasionalposterior 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-MarieSyndrome, Rheumatoid Spondylitis)

Ocular features are nongranulomatous anterior uveitis, optic nerveatrophy (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 orcortical cataracts appear clinically as oil droplets,bilateral zonular cataracts with fine punctateopacities 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, severemental 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.


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 hypoplasiaof retina and choroid, epicanthus, lateral displacement of inferior puncta, lenticonus, underdevelopment of orbital bones, lateraldisplacement 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 withconstant epiphora, mucopurulent conjunctivaldischarge, keratitis, nanocanalization of thelacrimal duct.Systemic features are deformities of hands and feet (“lobster claw”),absence of both index and middle fingers andsecond metacarpals with rudimentary thirdmetacarpals, syndactylism, cleft palate and lips,deafness, ear malformation, renal anomalies.

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

Ocular features are microphthalmia, cataract, immature anteriorchamber angle, retinal dysplasia, retinal detachment,persistent hyperplastic primary vitreous,optic nerve hypoplasia, iris coloboma, opaquecornea, myopia, orbicularis weakness, irregulargray subretinal mottling, optic atrophy.Systemic features include cerebral and cerebellar agyria-micropolygyria,cortical disorganization, glialmesodermal proli feration, neuronal heterotopias, hypoplasia ofnerve 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 ofeyelids, congenital cataracts, congenital cornealopacities, colobomata.Systemic features are basal cell nevi with multiple basalomatousnodules on face, neck and trunk, epitheliomaadenoides 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 pituitaryadenoma.Systemic features include parathyroid adenomas or hyperplasia, pancreaticadenomas, 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 retinaldegeneration, proptosis, telangiectasia of lid,astigmatism, nystagmus, presbyopia, uveitis.Systemic features include leanness, short stature (160 cm maximum),thin limbs, short, deformed fingers, smallmouth, early baldness, stretched, atrophic skin(scleropoikiloderma), telangiectasia and trophicindolent ulcers on toes, heels and ankles,arteriosclerosis with secondary heart failure.

West Syndrome (Massive Myoclonia, Jackknife Convulsion)

Ocular features include nystagmusSystemic 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, heterochromiairidis.Systemic features are deafness or deaf-mutism, torticollis with short,webbed neck, epilepsy, mental retardation, cleftpalate, scoliosis, ventricular septal defect, ectopickidney, hydrocephalus, hypoplastic thumb, andgrowth 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 palpebralfissures, ptosis, nystagmus, strabismus,iris coloboma, retinal coloboma.Systemic features are microcephaly, mental retardation, seizures, earmalformations, hypospadias, beaked nose, broadnasal root, cleft lip and palate, hypotonia.


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.


Young-Simpson Syndrome

Ocular features include blepharophimosisSystemic features are congenital hypothyroidism, congenital heartdefects, facial dysmorphism (microcephaly, bulbousnose, low-set ears, micrognathia), cryptorchidismin males, hypotonia, mental retardation,postnatal growth retardation.


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

Ocular features are ectropion, chronic blepharitis, obstruction oflacrimal puncta, conjunctival keratinization,bullous conjunctivitis, epiphora, nasolacrimalduct 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, dystrophyof nails, vesicular and bullous lesionsof oral cavity followed by ulceration, mucosalatrophy, leukoplakia, aplastic anemia, defect ofteeth, physical and mental development may beretarded, tufts of hairs on the limbs, keratinizedbasal cell, papillomas on the trunk.

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

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

Dr. Niranjan Karthik Senthil Kumar
Dr. Niranjan Karthik Senthil Kumar , hailing from city of Chennai, is currently pursuing Post graduation in Regional Institute of Ophthalmology & Government Ophthalmic Hospital , Madras Medical College , Chennai. He was awarded the prestigious T.M.A Pai Gold Medal for the best outgoing student of his batch. He had bagged several gold medals in various subjects in his undergraduation. Currently in his first year of residency , Niranjan has participated in various ophthalmology quizzes at local and national levels and bagged several prizes including 2nd prize at H.K.Tewari Annual Gold Medal Exam held every year at AIOS National Conference 2020. He has contributed a few sections of the TJOSR , the scientific journal of TNOA , the ophthalmic association of Tamil Nadu. His areas of interest includes Medical Retina , Glaucoma. And Cornea.
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