Achromatopsia |
CNGB3 (AR) |
Aland Island eye disease |
GPR143 (XLR) |
Anterior-segment dysgenesis |
PITX3 (AD) |
Bietti crystalline corneoretinal dystrophy |
CYP4V2 (AD) |
Blue cone monochromacy |
OPN1LW; OPN1MW (XLR) |
Brittle cornea syndrome |
ZNF469; PRDM5 (AR) |
Cataract |
BFSP2; CRYBA2; EPHA2 (AD) |
Colobomatous macrophthalmia with microcornea |
CH |
Cone dystrophy |
KCNV2 (AD) |
Cone rod dystrophy |
C8orf37 (AR); RAB28 (AR); RPGR (XLR); CACNA1F (XLR) |
Congenital microcoria |
CH |
Congenital stationary night blindness |
NYX (XLR); CACNA1F (XLR); GRM6 (AR); SLC24A1 (AR); LRIT3 (AR); GNB3 (AR); GPR179 (AR) |
Ectopia lentis et pupillae |
ADAMTSL4 (AR) |
High myopia with cataract and vitreoretinal degeneration |
P3H2 (AR) |
Keratoconus |
VSX1 (AD) |
Leber congenital amaurosis |
TULP1 (AR) |
Microcornea, myopic chorioretinal atrophy, and telecanthus |
ADAMTS18 (AR) |
Microspherophakia and/or megalocornea, with ectopia lentis and/or secondary glaucoma |
LTBP2 (AR) |
Ocular albinism |
OCA2 (AR) |
Primary open angle glaucoma |
MYOC; OPTN (AD) |
Retinal cone dystrophy |
KCNV2 (AR) |
Retinal dystrophy |
C21orf2 (AR); TUB (AR) |
Retinitis pigmentosa |
RP1 (AD); RP2 (XLR); RPGR (XLR); TTC8 (AR) |
Sveinsson chorioretinal atrophy |
TEAD1 (AD) |
Vitreoretinopathy |
ZNF408 (AD) |
Wagner vitreoretinopathy |
VCAN (AD) |
Weill-Marchesani syndrome |
ADAMTS10 (AR); FBN1 (AD); LTBP2 (AR); ADAMTS17 (AR) |