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].
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
|
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
|
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
|
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
|
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
|
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
|