Genetic Eye Diseases

From EyeWiki


Introduction

Genetic disorders are diseases that result from a change in the normal DNA sequence. Most genetic disorders are caused by multifactorial means, involving a combination of genetic and environmental factors. Thousands of human diseases are now known to be caused by single gene disorders and chromosomal abnormalities, many of which involve eye or ocular adnexa sequelae. The human eye is a complex and unique sense organ in allowing for many of the clinical features to be characterized with an unaided bare eye or simple ophthalmic examination tool. Thus the phenotypes of many ophthalmic genetic conditions have been well characterized, and the ophthalmic exam may offer important information in detecting the underlying genetic disorder. Presented in the following sections are reported eye features, inheritance patterns, known associated gene or chromosomal abnormality, and MIM reference number for selected genetic diseases [1] [2] [3] [4] [5] [6] [7] [8] [9] [10] [11].

Diseases A-C

DISORDER EYE FINDING MODE OF INHERITANCE KNOWN GENES OR CHROMOSOMAL ABNORMALITY INVOLVED MIM SYMBOL & NUMBER REFERENCE
ABETALIPOPROTEINEMIA (BASSEN-KORNZWEIG SYNDROME) Retinopathy AR MTP #200100
ACHROMATOPSIA Photophobia, day blindness, nystagmus, colorblindness, myopia AR CNGA3, CNGB3 #216900, #262300
AICARDI SYNDROME Chorioretinal lacunae, retinal detachment, cataract, nystagmus, optic nerve atrophy, optic nerve coloboma, microphthalmia, sparse lateral eyebrows XLD - %304050
ALAGILLE SYNDROME Posterior embryotoxin, deep-set eyes, hypertelorism, upslanting palpebral fissures, ectopic pupils, chorioretinal atrophy, band keratopathy, cataracts, retinal pigment clumping, axenfeld anomaly, anomalous optic disc, myopia, strabismus, choroidal folds, microcornea AD; 50-70% de novo JAG1, NOTCH2 #118450
ALKAPTONURIA Pigmented sclera AR HGD #203500
ALLAN-HERNDON-DUDLEY SYNDROME Nystagmus, disconjugate eye movements XLD SLC16A2 #300523
ALPERS SYNDROME Cortical blindness, abnormal visual evoked potential AR POLG #203700
ALPORT SYNDROME Cataracts, anterior lenticonus, myopia, retinal pigmentary changes XLD, AR COL4A5, COL4A4, COL4A3 #301050, #203780
ALSTROM SYNDROME Cone-rod dystrophy, photophobia, nystagmus, cataracts AR ALMS1 #203800
ANGELMAN SYNDROME Refractive errors, strabismus, ocular hypopigmentation Isolated cases UBE3A, CDKL5, MECP2 #105830
ANIRIDIA Cataract, glaucoma, Peter’s anomaly, corneal clouding AD PAX6, ELP4 #106210
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS Cataract, corneal opacity, dysgenesis of ocular anterior segment AD FOXE3,PITX3 #107250
APERT SYNDROME Shallow orbits, proptosis, hypertelorism, downslanting palpebral fissures AD FGFR2 #101200
ARIMA SYNDROME Chorioretinal coloboma, retinal dystrophy, nystagmus, abnormal eye movements, blepharoptosis, extinguished electroretinogram AR - %243910
ARMFIELD X-LINKED MENTAL RETARDATION SYNDROME Cataracts, Glaucoma, Strabismus XLR - %300261
ARTS SYNDROME (MENTAL RETARDATION, X-LINKED, SYNDROMIC 18) Optic atrophy, nystagmus XLR PRPS1 #301835
ATAXIA-OCULOMOTOR APRAXIA SYNDROME Oculomotor apaxia, nystamus, hypometric saccades, external ophthalmoplegia AR APTX -
ATAXIA TELANGIECTASIA (LOUIS-BAR SYNDROME) Oculomotor abnormalities AR ATM #208900
AUTOSOMAL DOMINANT CEREBELLAR ATAXIA DEAFNESS AND NARCOLEPSY (ADCADN) Optic atrophy AD DNMT1 #604121
AVELLINO CORNEAL DYSTROPHY (COMBINED GRANULAR-LATTICE CORNEAL DYSTROPHY) Hyaline changes in anterior stroma, fusiform amyloid deposits in deeper stroma AD TGFBI #607541
AXENFELD-RIEGER SYNDROME Prominent Schwalbe line, iris dysplasia, iris strands, corectopia, polycoria, glaucoma, strabismus, hypertelorism, telecanthus AD PITX2, FOXC1 #180500, %601499, #602482
BARAITSER-WINTER SYNDROME 1 Coloboma, epicanthal folds, hypertelorism, ptosis AD ACTB #243310
BARDET BIEDL SYNDROME Retinitis degeneration, cataracts, strabismus AR Numerous Multiple
BASAL CELL NEVUS SYNDROME Strabismus, glaucoma, iris coloboma, hypertelorism AD PTCH1, PTCH2, SUFU #109400
BEARE-STEVENSON SYNDROME Proptosis, hypertelorism, downslanting palpebral fissures AD FGFR2 #123790
BECKWITH-WIEDEMANN SYNDROME Deep-set eyes, hypertelorism, epicanthal folds, downslanting palpebral fissures, synophrys AD, sporadic (majority of cases) NSD1, H19, KCNQ1OT1, CDKN1C #130650
BEST MACULAR DYSTROPHY Yellow pigmented macular lesion, cystoid macular degeneration AD BEST1 #153700
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY Retinal degeneration, choroidal vessel sclerosis, crystalline corneal deposits, marginal corneal dystrophy, night blindness AR CYP4V2 #210370
BLAU SYNDROME Uveitis, choroiditis, macular and optic disc edema, band keratopathy, cataracts, glaucoma AD NOD2 #186580
BLEPHAROPHIMOSIS, PTOSIS, and EPICANTHUS INVERSUS (BPES) Blepharophimosis, ptosis, epicanthus inversus, telecanthus, microphthalmia, microcornea, strabismus, hypermetropia, nystagmus, pronounced convex arched eyebrows AD (50% de novo) FOXL2 #110100
BLUE-CONE MONOCHROMACY Blue cone type colorblindness, photophobia, nystagmus, myopia, macular pigment epithelial changes XLR OPN1LW, OPN1MW #303700
BRANCHIOOTORENAL SYNDROME Eyes absent, lacrimal duct aplasia AD EYA1, SIX1, SIX5 #113650
CANTU SYNDROME Epicanthal folds, long eyelashes AD ABCC9 #239850
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME Chorioretinal coloboma XLR - 300864
CEREBROOCULOFACIOSKELETAL SYNDROME Cataracts, blepharophimosis, microphthalmia, nystagmus, deep-set eyes AR ERCC6 #214150
CEREBROOCULONASAL SYNDROME Anophthalmia, Sparse eyebrows and eyelashes, hypertelorism, epicanthal folds AD - %605627
CEREBROTENDINOUS XANTHOMATOSIS Cataracts AR CYP27A1 #213700
CHARCOT-MARIE-TOOTH DISEASE Glaucoma, slow pupillary reaction, nystagmus, optic nerve atrophy AD, AR, XLD Numerous Multiple
CHARGE SYNDROME Anophthalmia, microphthalmia, ptosis, hypertelorism, downslanting palpebral fissures, coloboma in iris, oprtic nerve, retina AD CHD7, SEMA3E #214800
CHEDIAK-HIGASHI SYNDROME Decreased iris pigmentation, nystagmus, photophobia, strabismus, macular hypoplasia AR CHS1 #214500
CHERUBISM Proptosis, globe displacement, lower eyelid retraction, optic neuropathy, striae of macula, marcus-gunn pupil AD SH3BP2 #118400
CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA Microphthalmia XLD HDAC6 #300863
CHOROIDEREMIA Choroidoretinal degeneration, night blindness, visual field constriction XLD CHM #303100
CHRISTIAN SYNDROME Cranial nerve VI palsy X-linked - %309620
CHRISTIANSON SYNDROME Ophthalmoplegia, deep-set eyes, bushy eyebrows XLD SLC9A6 #300243
CK SYNDROME Strabismus, epicanthal folds, upslanting palpebral fissures, almond-shaped eyes XLR NSDHL #300831
COCKAYNE SYNDROME Pigmentary retinopathy, cataracts, nystagmus, strabismus, optic atrophy, hyperopia, corneal opacity, decreased lacrimation, microphthalmos, iris hypoplasia AR ERCC6, ERCC8 #216400, #133540
COLORBLINDNESS, DEUTAN Green colorblindness X-linked OPN1MW #303800
COLORBLINDNESS, PROTAN Red colorblindness X-linked OPN1LW #303900
COLORBLINDNESS, TRITANOPIC Abnormal blue and yellow vision AD OPN1SW #190900
CONE-ROD DYSTROPHY Dyschromatopsia, photophobia, nystagmus, maculopathy, progression to night blindness later AD, AR, X-linked Numerous Multiple
CONGENITAL DISORDER OF GLYCOSYLATION Retinitis pigmentosa, nystagmus, strabismus AR, X-linked Numerous Multiple
CONGENTIAL FIBROSIS OF EXTRAOCULAR MUSCLES Ptosis, ophthalmoplegia AD, AR KIF21A, PHOX2A, ARIX, TUBB3 #135700, #602078, #600638
CONGENITAL NYSTAGMUS Pendular and horizontal nystagmus, head turn, strabismus AD, AR, X-linked Numerous Multiple
CONGENITAL STATIONARY NIGHT BLINDNESS Night blindness, myopia AD, AR, X-linked Numerous Multiple
CORNEA PLANA Hyperopia, hazy corneal limbus, corneal opacities, thin cornea AR KERA #217300
CORNELIA DE LANGE SYNDROME Myopia, ptosis, synophrys, long eyelashes, hypertelorism, telecanthus, hooding of eyelids AD, X-linked SMC1A, HDAC8, numerous others Multiple
CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA Coloboma, downslanting palpebral fissures XLR IGBP1 #300472
COSTEFF SYNDROME Optic atrophy AR OPA3 -
CRIGLER-NAJJAR GILBERT SYNDROME Jaundice AR UGT1A1 #218800, #606785
CROUZON SYNDROME Shallow orbits, proptosis, strabismus, hypertelorism, optic atrophy AD FGFR2 #123500
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (CROUZONODERMOSKELETAL SYNDROME) Shallow orbits, proptosis, strabismus, hypertelorism, optic atrophy AD FGFR3 #612247
CUTIS LAXA, DEBRE TYPE Strabismus, myopia, downslanting palpebral fissures AR ATP6V0A2 #219200
CYSTINOSIS Photophobia, corneal and conjunctival crystals, retinopathy, recurrent corneal erosions AR CTNS #219750, #219800

Diseases D-F

DISORDER EYE FINDING MODE OF INHERITANCE KNOWN GENES OR CHROMOSOMAL ABNORMALITY INVOLVED MIM SYMBOL & NUMBER REFERENCE
DELLEMAN SYNDROME (OCULOCEREBROCUTANEOUS SYNDROME) Anophthalmia, microphthalmia, eyelid coloboma, orbital cysts, nystagmus Isolated cases - 164180
DOWN SYNDROME Iris brushfield spots, upslanting palpebral fissures, epicanthal folds Most cases not inherited Trisomy 21 (most cases), translocation, mosaic #190685
DOYNE HONEYCOMB DYSTROPHY (MALATTIA LEVENTINESE) Retinal degeneration AD EFEMP1 #126600
DUANE-RADIAL RAY SYNDROME Strabismus, Duane anomaly, globe retraction and palpebral fissure narrowing on adduction, optic disc hypoplasia, iris coloboma, retinal coloboma, epicanthal folds, hypertelorism, cataracts, microphthalmia AD SALL4 #607323
DYSKERATOSIS CONGENITA Sparse eyelashes, optic atrophy, conjunctival leukoplakia, epiphora, strabismus, cataract AD, AR, X-linked Numerous Multiple
ECTOPIA LENTIS ET PUPILLAE Ectopic lens and pupil, cataract, myopia, abnormal appearing iris, increased corneal diameter, retinal detachment AR ADAMTSL4 #225200
ECTOPIA LENTIS, FAMILIAL Congenital lens dislocation AD FBN1 #129600
ECTOPIA LENTIS, ISOLATED Lens dislocation AR ADAMTSL4 #225100
EHLERS-DANLOS SYNDROME Myopia, ectopia lentis, blue sclera, epicanthal folds, keratoconus AD COL5A1 and COL5A2, COL3A1, TNXB Multiple
ENHANCED S-CONE SYNDROME Vitreoretinal degeneration, retinoschisis, hemeralopia, macular edema, cataract, night blindness AR NR2E3 #268100
EPITHELIA BASEMENT MEMBRANE CORNEAL DYSTROPHY (MAP-DOT-FINGERPRINT CORNEAL DYSTROPHY) Map lines-dots-fingerprint lines epithelial corneal changes, recurrent corneal erosions AD TGFBI #121820
FABRY DISEASE (HEREDITARY DYSTOPIC LIPIDOSIS) Corneal opacities (cornea verticillata), retinal vessel tortuosity, cataracts X-linked GLA #301500
FAMILIAL DYSAUTONOMIA Alacrima, Diminished corneal reflex AR IKBKAP #223900
FISH-EYE DISEASE Corneal opacities AR LCAT #136120
FUCH'S ENDOTHELIAL CORNEAL DYSTROPHY Corneal endothelial guttata, stromal edema, endothelial cell death, hypertrophy and polymorphism AD Numerous Multiple

Diseases G-I

DISORDER EYE FINDING MODE OF INHERITANCE KNOWN GENES OR CHROMOSOMAL ABNORMALITY INVOLVED MIM SYMBOL & NUMBER REFERENCE
GALACTOKINASE DEFICIENCY Cataracts AR GALK1 #230200
GALACTOSEMIA Cataracts AR GALT #230400
GAUCHER'S DISEASE Macular atrophy, increased vascular permeability, perimacular grayness, brown deposits at limbus, white deposits in anterior segment, strabismus, oculomotor apraxia, supranuclear gaze palsy, hypertelorism, corneal opacities, nystagmus AR GBA #230800, #230900, #231000, #231005, #608013
GLAUCOMA, CONGENITAL Buphthalmos, increased intraocular pressure, corneal haze, myopia AR CYP1B1, MYOC #231300, %600975
GLAUCOMA, OPEN ANGLE JUVENILE ONSET Increased intraocular pressure, myopia AD MYOC, CYP1B1 #137750
GLAUCOMA, OPEN ANGLE ADULT ONSET Increased intraocular pressure, myopia AD OPTN, ASB10, WDR36 #137760, %601682, %602429, #603383, #609887, %611276, #177700
GM1-GANGLIOSIDOSIS, TYPE I Cherry-red spot, hypertelorism AR GLB1 #230500
GM1-GANGLIOSIDOSIS, TYPE II Optic atrophy AR GLB1 #230600
GM1-GANGLIOSIDOSIS, TYPE III Corneal clouding AR GLB1 #230650
GOLDENHAR SYNDROME (HEMIFACIAL MICROSOMIA) Upper eyelid coloboma, epibulbar dermoid, blepharophimosis, strabismus, microphthalmia, anophthalmia AD - %164210
GOLTZ SYNDROME Microphthalmia, anophthalmia, strabismus, coloboma, aniridia, ectopia lentis, optic atrophy, nystagmus XLD PORCN #305600
GRANULAR CORNEAL DYSTROPHY (GROENOUW TYPE I) Opacities in stromal layer AD TGFBI #121900
GYRATE ATROPHY Progressive chorioretinal degeneration, night blindness, myopia, cataracts AR OAT #258870
HEREDITARY HEMORRHAGIC TELANGIETASIA (OSLER-RENDU-WEBER DISEASE) Conjunctival telangiectases AD ENG #187300
HERMANSY-PUDLAK SYNDROME Oculocutaneous albinism, nystagmus, reduced iris pigment, decreased retinal pigment, foveal hypoplasia AR Numerous Multiple
HOMOCYSTINURIA Ectopia lentis, myopia, glaucoma AR CBS #236200
IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME Photophobia, corneal opacities and erosions, vascularizing keratitis XLR MBTPS2 #308205
INCONTINENTIA PIGMENTI (BLOCH-SULZBERGER SYNDROME) Retinal vascular proliferation, retinal detachment, strabismus, optic atrophy, cataract, microphthalmos XLD IKBKG #308300

Diseases J-L

DISORDER EYE FINDING MODE OF INHERITANCE KNOWN GENES OR CHROMOSOMAL ABNORMALITY INVOLVED MIM SYMBOL & NUMBER REFERENCE
JACKSON-WEISS SYNDROME Craniosynostosis AD FGFR1, FGFR2 #123150
JALILI SYNDROME Cone-rod dystrophy, nystagmus, photophobia, bull's eye macular lesion, progressive central vision loss, night blindness, optic pale disc AR CNNM4 #217080
JOUBERT SYNDROME Pigmentary retinopathy, oculomotor apraxia or difficulty in smooth visual pursuits and jerkiness in gaze tracking, ptosis, coloboma, epicanthal folds AR (most common), XLR Numerous Multiple
JUBERG-MARSIDI SYNDROME Ptosis, epicanthal folds, hypertelorism, upslanting palpebral fissures, exotropia, optic atrophy XLR ATRX #309580
KRABBE DISEASE Nystagmus, optic atrophy AR GALC #245200
KEARNS-SAYRE SYNDROME Ptosis, progressive external ophthalmoplegia, pigmentary retinopathy Mitochondrial Multiple #530000
KLIPPEL-TRENAUNAY-WEBER Glaucoma Isolated cases - %149000
LATTICE CORNEAL DYSTROPHY Lattice pattern of amyloid deposits in stromal layer, recurrent corneal erosions AD TGFBI #122200, #608471
LCHAD (LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE) DEFICIENCY Pigmentary retinopathy AR HADHA #609016
LEBER CONGENITAL AMAUROSIS Pigmentary retinopathy, photophobia, cataract, nystagmus, eye poking, diminished electroretinogram AD, AR Numerous Multiple
LEBER HEREDITARY OPTIC NEUROPATHY Progressive blurred vision, optic atrophy, vascular tortuosity of central retinal vessels, circumpapillary telangiectatic macroangiopathy, retinal nerve fibers swelling Mitochondrial MTND1, MTND4, MTND5, MTND6 #535000
LEIGH SYNDROME Pigmentary retinopathy, nystagmus, optic atrophy, ophthalmoplegia Mitochondrial Numerous Multiple
LOWE Glaucoma, congenital cataract, microphthalmia XLR OCRL1 #309000

Diseases M-O

DISORDER EYE FINDING MODE OF INHERITANCE KNOWN GENES OR CHROMOSOMAL ABNORMALITY INVOLVED MIM SYMBOL & NUMBER REFERENCE
MACULAR DEGENERATION, AGE-RELATED Degeneration of macula that affects central vision - Numerous Multiple
MACULAR CORNEAL DYSTROPHY (GROENOUW TYPE II) Gray-white punctate opacities in stromal layer that extent to peripheral cornea with lack of clear spaces between opacities AR CHST6 #217800
MAINZER-SALDINO SYNDROME Retinal pigmentary dystrophy, nystagmus AR IFT140 #266920
MANNOSIDOSIS Conjunctival vessel tortuosity, nystagmus, impaired smooth pursuits, progressive retinal degeneration, heavy eyebrows, epicanthal folds AR MANBA, MAN2B1 #248510, #248500
MARCUS GUNN PHENOMENON Unilateral congenital ptosis, elevation of ptotic lid upon movement of lower jaw ?AD - 154600
MARFAN SYNDROME Ectopia lentis, myopia AD FBN1 #154700
MASS SYNDROME (OVERLAP CONNECTIVE TISSUE DISEASE) Myopia - FBN1 #604308
MECKEL SYNDROME Iris colobma, hypertelorism and hypotelorism, microphthalmia AR Numerous Multiple
MEESMANN CORNEAL DYSTOPHY Punctate opacities in corneal epithelium, photophobia, astigmatism AD KRT3, KRT12 #122100
MELAS SYNDROME Cortical blindness, hemianopsia, cataracts Mitochondrial Multiple #540000
MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE Strabismus, nystagmus, hypotelorism, deep-set eyes XLR OPHN1 #300486
MERRF SYNDROME Optic atrophy, pigmentary retinopathy Mitochondrial Numerous #545000
METACHROMATIC LEUKODYSTROPHY Optic atrophy AR ARSA #250100
MICPCH SYNDROME Epicanthal folds, hypertelorism, optic nerve hypoplasia, strabismus XLD CASK #300749
MOHR-TRANEBJAERG SYNDROME Cortical blindness, myopia, photophobia, constricted visual fields XLR TIMM8A #304700
MOYAMOYA DISEASE Morning glory disc anomaly, choroidal coloboma AR Numerous Multiple
MOYAMOYA DISEASE, SYNDROMIC Ptosis, cataracts, hypertelorism, deep-set eyes XLR Deletion of Xq28 #300845
MUCOPOLYSACCHARIDOSIS TYPE IH (HURLER SYNDROME) Corneal clouding, retinopathy, glaucoma AR IDUA #607014
MUCOPOLYSACCHARIDOSIS TYPE IH/S (HURLER-SCHEIE SYNDROME) Corneal clouding AR IDUA #607015
MUCOPOLYSACCHARIDOSIS TYPE IS (SCHEIE SYNDROME) Corneal clouding, retinopathy, glaucoma AR IDUA #607016
MUCOPOLYSACCHARIDOSIS TYPE II (HUNTER SYNDROME) Retinopathy, ptosis, papilledema XLR IDS #309900
MUCOPOLYSACCHARIDOSIS TYPE IIIA (SANFILIPPO SYNDROME A) Synophrys AR SGSH #252900
MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO SYNDROME B) Synophrys AR NAGLU #252920
MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO SYNDROME C) Retinitis pigmentosa, synophrys AR HGSNAT #252930
MUCOPOLYSACCHARIDOSIS TYPE IIID (SANFILIPPO SYNDROME D) Synophrys AR GNS #252940
MUCOPOLYSACCHARIDOSIS TYPE IVA (MORQUIO SYNDROME A) Corneal clouding, Retinopathy AR GALNS #253000
MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO SYNDROME B) Corneal clouding, Retinopathy AR GLB1 #253010
MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY SYNDROME) Corneal clouding, glaucoma AR ARSB #253200
MUCOPOLYSACCHARIDOSIS TYPE VII (SLY SYNDROME) Corneal clouding AR GUSB #253220
MUENKE SYNDROME Ptosis, hypertelorism, downslanting palpebral fissures AD FGFR3 #602849
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY Microphthalmia, microcornea, colobomas, optic nerve hypoplasia, cataracts, retinal dysplasia, iris malformation, myopia, glaucoma AD, AR (most) Numerous Multiple
MYOTONIC DYSTROPHY Iridescent cataract AD DMPK, ZNF9, CNBP #160900, #602668
NAIL-PATELLA SYNDROME Cataract, microcornea, microphakia, keratoconus, glaucoma, ptosis AD LMX1B #161200
NANCE-HORAN SYNDROME Congenital cataracts, glaucoma, microphthalmia, microcornea, nystagmus XLD NHS #302350
NATIVE AMERICAN MYOPATHY Short and downslanting palpebral fissures, ptosis, telecanthus AR STAC3 #255995
NEUROFIBROMATOSIS TYPE I Café au lait, optic glioma, lisch nodules, glaucoma AD NF1 #162200
NEUROFIBROMATOSIS Type II Cataracts, retinal hamartoma AD NF2 #101000
NEUROFIBROMATOSIS-NOONAN SYNDROME Ptosis, lisch nodules, epicanthal folds, hypertelorism, downslanting palpebral fissures AD NF1 #601321
NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA (NARP) Retinopathy, nystagmus, sluggish pupils Mitochondrial MT-ATP6 #551500
NIEMANN-PICK DISEASE Cherry-red macula, granular appearing macula, vertical supranuclear gaze palsy AR NPC1, NPC2, SMPD1 #257200, #607616, #257220
NOONAN SYNDROME Epicanthal folds, myopia, ptosis, hypertelorism, downslanting palpebral fissures AD Numerous Multiple
NORMAL-TENSION GLAUCOMA Glaucoma with no elevated intraocular pressure - OPA1, OPTN #606657
NORRIE DISEASE Retinal detachment, microphthalmia, retinal dysplasia, corneal and vitreous opacities, cataract, optic atrophy XLR NDP #310600
NEURONAL CEROID LIPOFUSCINOSIS Optic atrophy, retinal degeneration, abnormal electroretinogram AD, AR (majority) Numerous Multiple
OCCULT MACULAR DYSTOPHY Progressive decreased vision, reduced focal macular electroretinogram AD RP1L1 #613587
OCULAR ALBINISM Nystagmus, decreased iris pigment, translucent iris, foveal hypoplasia, strabismus, translucent iris, nystagmus, photophobia, high refractive erros X-linked GPR143 #300500
OCULOCUTANEOUS ALBINISM Nystagmus, decreased iris pigment, translucent iris, foveal hypoplasia, strabismus, white hair and skin, translucent iris, nystagmus, photophobia, high refractive erros AR TYR, OCA2, TYRP1, or SLC45A2, MC1R Multiple
OGUCHI DISEASE Congenital stationary night blindness, golden yellow fundus in light that disappears in dark adaptation (Mizuo-Nakamura phenomenon) AR SAG, GRK1 #258100, #613411
OPTIC ATROPHY Optic nerve pallor, cataract AD, AR, X-linked Numerous Multiple
ORAL-FACIAL-DIGITAL SYNDROME Downslanting palpebral fissures, telecanthus, hypertelorism, epicanthus, nystagmus, strabismus AR, XLD Numerous Multiple
OSTEOGENESIS IMPERFECTA Blue or grey sclera AD (most common), AR, sporadic COL1A1, COL1A2, CRTAP, LEPRE1 Multiple

Diseases P-R

DISORDER EYE FINDING MODE OF INHERITANCE KNOWN GENES OR CHROMOSOMAL ABNORMALITY INVOLVED MIM SYMBOL & NUMBER REFERENCE
PELIZAEUS-MERZBACHER Optic atrophy, nystagmus XLR PLP1 #312080
PETERS' ANOMALY Central corneal leukoma, absent Descemet membrand and posterior stroma, iris and lens attachments to posterior cornea AD, AR PAX6, PITX2, CYP1B1, FOXC1 #604229
PETERS-PLUS SYNDROME (KRAUSE-KIVLIN SYNDROME) Peter's anomaly, nystagmus, glaucoma, cataract, myopia, coloboma, upslanting palpebral fissures, ptosis, hypertelorism AR B3GALTL #261540
PFEIFFER SYNDROME Shallow orbits, proptosis, hypertelorism, downslanting palpebral fissures, strabismus AD FGFR1, FGFR2 #101600
PHACE ASSOCIATION Optic nerve hypoplasia, microphthalmos, exophthalmos, choroidal hemangiomas, colobomas, cryptophthalmos, microphthalmos, strabismus, posterior embryotoxon, Horner syndrome, strabismus, cataracts - - 606519
PHENYLKETONURIA Possible cataracts and blue eyes in untreated AR PAH #261600
PIERRE ROBIN SEQUENCE Stickler syndrome AD, AR, X-linked, isolated - %261800
PIGMENT DISPERSION SYNDROME Glaucoma, myopia, pigment granules on corneal endothelium, iris transillumination defects, concave iris, increased pigmentation of trabecular meshwork, deposited pigment on Schwalbe's line AD - %600510
PRADER-WILLI SYNDROME Refractive errors, strabismus, upslanting palpebral fissures, almond-shaped eyes Isolated NDN, SNRPN #176270
PRIETO SYNDROME Strabismus, ptosis, nystagmus, hypertelorism, epicanthal folds XLR - %309610
PROUD SYNDROME Nystagmus, strabismus, optic atrophy, synophrys X-linked ARX #300004
PSEUDOEXFOLIATION SYNDROME Glaucoma, white flaky deposits on anterior lens and pupillary border of iris, iris transillumination defects, pigmented granules on trabecular meshwork, poor pupillary response in dilation, weak zonules AD LOXL1 #177650
REFSUM DISEASE Night blindness, cataracts, retinal pigmentary degeneration, constricted visual fields AR PHYH, PEX7 #266500
REIS-BUCKLERS CORNEAL DYSTROPHY Reticular opacities in Bowman's layer, recurrent corneal erosions AD TGFBI #608470
RENPENNING SYNDROME (MENTAL RETARDATION, X-LINKED, RENPENNING TYPE) Strabismus, cataracts, epicanthus, colobomas, microphthalmia, long eyelashes, sparse eyebrows, hyperopia, upslanting palpebral fissures XLR PQBP1 #309500
RETINITIS PIGMENTOSA Progressive retinal degeneration, night blindness, constricted visual fields, dyschromatopsia, cystoid macular edema, pigment clumps in retina, attenuated retinal vessels, waxy pallor of optic disc, cataracts AD, AR, XLR Numerous Multiple
RETINOBLASTOMA Leukcoria, strabismus, retinal detachment, glaucoma, pseudouveitis, proptosis, hyphema, orbital cellulitis, red painful eye AD, sporadic RB1 #180200
RETINOSCHISIS, JUVENILE X LINKED Retinoschisis, retinal detachment, nystagmus, vitreous hemorrhage, cystic maculopathy X-linked RS1 #312700
ROIFMAN SYNDROME Retinal dystrophy, strabismus, refractive error, narrow palpebral fissures, downslanting palpebral fissures, long eyelashes XLR - %300258
RUBINSTEIN-TAYBI SYNDROME Glaucoma, cataracts, strabismus, coloboma, epicanthal folds, ptosis, downward slanting palpebral fissures, heavy and arched eyebrows, long eyelashes AD CREBBP, EP300 #180849, #613684, #610543
RUSSELL-SILVER SYNDROME Blue sclera AD, AR, sporadic (most cases) #180860

Diseases S-U

DISORDER EYE FINDING MODE OF INHERITANCE KNOWN GENES OR CHROMOSOMAL ABNORMALITY INVOLVED MIM SYMBOL & NUMBER REFERENCE
SAETHRE-CHOTZEN SYNDROME Coronal synostosis, orbital asymmetry, shallow orbits, ptosis, strabismus, hypertelorism, lacrimal duct abnormalities AD TWIST1, FGFR2 #101400
SANDHOFF DISEASE (GM2-GANGLIOSIDOSIS, TYPE II) Cherry red spot AR HEXB #268800
SCHNYDER CORNEAL DYSROPHY Corneal clouding in stroma yellow-white crystal deposits AD UBIAD1 #121800
SENGERS SYNDROME Cataract, strabismus, glaucoma, myopia AR AGK #212350
SENIOR-LOKEN SYNDROME Tapetoretinal degeneration, photophobia, nystagmus, hyperopia, flat electroretinogram AR NPHP1, NPHP4 SDCCAG8, WDR19, CEP290, IQCB1 Multiple
SEPTIC-OPTIC DYSPLASIA (DE MORSIER SYNDROME) Optic nerve hypoplasia, nystagmus AD, AR, sporadic HESX1, OTX2, SOX2 #182230
SHASHI X-LINKED MENTAL RETARDATION SYNDROME (MENTAL RETARDATION, X-LINKED, SYNDROMIC 11) Narrow palpebral fissures, periorbital fullness XLR - %300238
SCHIMKE X-LINKED MENTAL RETARDATION SYNDROME External ophthalmoplegia X-linked - 312840
SMITH-MAGENIS SYNDROME (CHROMOSOME 17p11.2 DELETION SYNDROME) Microcornea, strabismus, iris anomalies, myopia AD (sporadic unless secondary to a parental balanced translocation) RAI1, most cases caused by by a 3.7-Mb interstitial deletion in chromosome 17p11.2 #182290
SICKLE CELL ANEMIA Retinopathy, retinal and vitreous hemorrhages, tractional retinal detachments, retinal vascular occlusions, comma shaped vessels in conjunctiva, angioid streaks AR HBB #603903
SIMPSON-GOLABI-BEHMEL SYNDROME Hypertelorism, epicanthal folds, downslanting palpebral fissures XLR GPC3, OFD1 #312870, #300209
SORSBY FUNDUS DYSTROPHY Progressive macular dystrophy, Night blindness AD TIMP3 #136900
SPASTIC PARAPLEGIA Nystagmus, optic atrophy AD, AR, X-linked, Mitochondrial Numerous Multiple
SPINOCEREBELLAR ATAXIA, X-LINKED 1 Slow eye movements, strabismus XLR ATP2B3 #302500
STARGARDT DISEASE/FUNDUS FLAVIMACULATUS Progressive macular dystophy, central retinal atrophy, macular flecks, later disease onset and scattered flecks with Fundus Flavimaculatus AD, AR ABCA4 (majority cases), ELOVL4, PROM1 #248200, #600110, #603786
STICKLER SYNDROME Myopia, retinal detachment, cataracts, glaucoma, vitreoretinal degeneration, no ocular signs (type III) AD (Type I,II,III), AR (Type IV, V) COL2A1, COL11A1, COL11A2, COL9A1, COL9A2 #108300, #604841, #184840, #614134, #614284, #609508
STURGE-WEBER SYNDROME Choroidal hemaiomata, glaucoma Isolated cases GNAQ #185300
SULFOCYSTEINURIA (SULFITE OXIDASE DEFICIENCY) Ectopia lentis AR SUOX #272300
SYNDROMIC MICROPHTHALMIA 1 (LENZ MICROPHTHALMIA SYNDROME) Anophthalmia, microphthalmia, microcornea, ptosis, colobomas X-linked NAA10 #309800
SYNDROMIC MICROPHTHALMIA 2 (OCULOFACIOCARDIODENTAL SYNDROME) Microphthalmia, microcornea, cataract, thick eyebrows, ptosis, bleparophimosis, strabismus XLD BCOR #300166
SYNDROMIC MICROPHTHALMIA 3 (MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME) Anophthalmia, microphthalmia, coloboma, optic nerve hypoplasia AD SOX2 #206900
SYNDROMIC MICROPHTHALMIA 4 Anophthalmia, ankyloblepharon X-linked - %301590
SYNDROMIC MICROPHTHALMIA 5 Anophthalmia, microphthalmia, microcornea, retinal dystrophy, optic nerve hypoplasia, colobomas AD OTX2 #610125
SYNDROMIC MICROPHTHALMIA 6 Anophthalmia, microphthalmia AD BMP4 #607932
SYNDROMIC MICROPHTHALMIA 7 (MIDAS SYNDROME) Microphthalmia, cataracts, coloboma, sclerocornea, pigmentary retinopathy XLD HCCS #309801
SYNDROMIC MICROPHTHALMIA 8 Microphthalmia, Microcornea, short palpebral fissures AD - %601349
SYNDROMIC MICROPHTHALMIA 9 (MATTHEW-WOOD SYNDROME) Anophthalmia, microphthalmia, coloboma, optic nerve hypoplasia, blepharophimosis, broad eyebrows AR STRA6 #601186
SYNDROMIC MICROPHTHALMIA 10 Microphthalmia - - %611222
SYNDROMIC MICROPHTHALMIA 11 Microphthalmia, optic nerve hypoplasia AR VAX1 #614402
SYNDROMIC MICROPHTHALMIA 12 Anophthalmia, microphthalmia AD RARB #615524
SYNDROMIC MICROPHTHALMIA 13 Microphthalmia, microcornea, ptosis, coloboma, nystagmus, esotropia X-linked HMGB3 #300915
SYNDROMIC MICROPHTHALMIA 14 Microphthalmia, coloboma - MAB21L2 #615877
TARP SYNDROME Short palpebral fissures, optic atrophy, underdeveloped supraorbital ridges, hypertelorism XLR RBM10 #311900
TAY-SACHS DISEASE (GM2-GANGLIOSIDOSIS, TYPE I) Cherry red spot AR HEXA #272800
THIEL-BEHNKE CORNEAL DYSTROPHY Honeycomb-shaped opacities in Bowman's layer, recurrent corneal erosions AD TGFBI %602082
TREACHER COLLINS SYNDROME Downslanting palpebral fissures, lower eyelid colobomas AD, AR Numerous #154500, #613717, #248390
TUBEROUS SCLEROSIS Retinal hamartomas, adenoma sebaceum of eyelids AD (2/3 de novo) TSC1 and TSC2 #191100, #613254
TURNER SYNDROME Hypertelorism Most not inherited SHOX -
TYROSINEMIA, TYPE II Herpetiform corneal ulcers, photophobia, excessive tearing AR TAT #276600
USHER SYNDROME retinitis pigmentosa, cataracts AR 11 genes, majority of cases due to MYO7A, USH2A Multiple

Diseases V-Z

DISORDER EYE FINDING MODE OF INHERITANCE KNOWN GENES OR CHROMOSOMAL ABNORMALITY INVOLVED MIM SYMBOL & NUMBER REFERENCE
VACTERL ASSOCIATION WITH HYDROCEPHALUS Downward gaze of eyes Mostly sporadic PTEN #276950
VAN DEN BOSCH SYNDROME Choroideremia XLR - %314500
VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET Yellow pigmented macular lesion, choroidal neovascularization, central retinal pigment epithelium atrophy AD PRPH2, BEST1 #608161
VON HIPPEL-LINDAU SYNDROME Hemangioblastoma AD VHL #193300
WAARDENBURG SYNDROME Heterochromic irides, dystrophia canthorum, blepharophimosis, hypertelorism, blue irides, synophrys AD, AR EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10 Multiple
WAGNER SYNDROME Myopia, vitreoretinal degeneration, chorioretinal atrophy, glaucoma, retinal detachment AD VCAN #143200
WATSON SYNDROME Lisch nodules AD NF1 #193520
WEILL-MARCHESANI SYNDROME Ectopia lentis, microspherophakia, glaucoma, myopia, cataract, shallow anterior chamber AD, AR ADAMTS10, FBN1, LTBP2 #277600, #608328, #614819
WIEACKER-WOLFF SYNDROME Ptosis, upslanting palpebral fissures, oculomotor apraxia XLR ZC4H2 #314580
WILSON DISEASE Kayser-Fleischer ring, cataracts AR ATP7B #277900
WITTWER SYNDROME Microphthalmia, optic atrophy X-linked - %300421
WOLFRAM SYNDROME Pigmentary retinopathy, optic atrophy, nystagmus, ptosis AR WFS1, CISD2 #222300, #604928, #598500
XERODERMA PIGMENTOSUM Keratitis, microcephaly, neoplasms, photophobia AR XPA, XPC, ERCC2, ERCC3, POLH Multiple

References

  1. ↑ Mona Al-Enezi, MD, FRCS (Ed), Hanan Al-Saleh, MD, FRCS, and Murad Nasser, MS (ICO), FRCS (Ed), Mitochondrial Disorders with Significant Ophthalmic Manifestations, Middle East Afr J Ophthalmol. 2008 Apr-Jun; 15(2): 81–86, doi: 10.4103/0974-9233.51998
  2. ↑ American College of Medical Genetics, World Wide Web URL: https://www.acmg.net
  3. ↑ Jane L Ashworth FRCOphth, PhD, Friedrich E Kruse MD, Björn Bachmann MD et al., Ocular manifestations in the mucopolysaccharidoses – a review, Clinical & Experimental Ophthalmology Special Issue: Mucopolysaccharidosis (MPS) and The Eye: What do we know and how can we treat? Volume 38, Issue Supplement s1, pages 12–22, August 2010
  4. ↑ Genetics Home Reference, World Wide Web URL: http://ghr.nlm.nih.gov/
  5. ↑ Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD), World Wide Web URL: http://omim.org/
  6. ↑ NCBI Gene Reviews Rare Disease Database, World Wide Web URL: http://www.ncbi.nlm.nih.gov/books/NBK1116/
  7. ↑ NORD Rare Disease Information Rare Disease Database, World Wide Web URL: https://www.rarediseases.org/rare-disease-information/rare-diseases
  8. ↑ M Rajappa, A Goyal and J Kaur, Inherited metabolic disorders involving the eye: a clinico-biochemical perspective, Eye (2010) 24, 507–518; doi:10.1038/eye.2009.229; published online 2 October 2009
  9. ↑ Roger E. Stevenson, MD, Charles E. Schwartz, Ph.D, R. Curtis Rogers, MD, Atlas of X-Linked Intellectual Disability Syndromes, Second Edition, 2012 Oxford University Press
  10. ↑ Elias I. Traboulsi, MD, Genetic Diseases of the Eye, Second Edition, Oxford University Press, 2012
  11. ↑ Myron Yanoff, Jay S. Duker, Ophthalmology Second Edition, 2004, Mosby, Inc.
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