Gene |
Chromosome |
Location |
Syndrome |
ABCA4 | 1 | p22.1 | cone-rod dystrophy | |
AIPL1 | 17 | p13.2 | Leber congenital amaurosis | |
CACNA1F | 23 | p11.23 | cone-rod dystrophy | |
CEP290 | 12 | q21.32 | Leber congenital amaurosis | |
CNGA3 | 2 | q11.2 | Achromatopsia | |
CNGB3 | 8 | q21.3 | Achromatopsia | |
CRB1 | 1 | q31.3 | Leber congenital amaurosis | |
CRX | 19 | q13.33 | Leber congenital amaurosis | |
CTNS | 17 | p13.2 | Cystinosis | |
DCN | 12 | q21.33 | Congenital stromal corneal dystrophy | |
GJB2 | 13 | q12.11 | Keratitis-ichthyosis-deafness syndrome | |
GNAT2 | 1 | p13.3 | Achromatopsia | |
GPR143 | 23 | p22.2 | Ocular albinism type 1 | |
GUCY2D | 17 | p13.1 | Leber congenital amaurosis | |
IMPDH1 | 7 | q32.1 | Leber congenital amaurosis | |
IQCB1 | 3 | q13.33 | Leber congenital amaurosis | |
KRT12 | 17 | q21.2 | Meesmann corneal dystrophy | |
KRT3 | 12 | q13.13 | Meesmann corneal dystrophy | |
LCA5 | 6 | q14.1 | Leber congenital amaurosis | |
LRAT | 4 | q32.1 | Leber congenital amaurosis | |
LRMDA | 10 | q22.2 | Oculocutaneous albinism - autosomal recessive | |
MBTPS2 | 23 | p22.12 | IFAP syndrome | |
MCR1 | 16 | q24.3 | Oculocutaneous albinism type 1 | |
NMNAT1 | 1 | p36.22 | Leber congenital amaurosis | |
NOD2 | 16 | q12.1 | Blau syndrome | |
OCA2 | 15 | q12 | Oculocutaneous albinism type 2 | |
OPN1LW | 23 | q28 | Color vision deficiency | |
OPN1MW | 23 | q28 | Color vision deficiency | |
OPN1SW | 7 | q32.1 | Color vision deficiency | |
PAX6 | 11 | p13 | aniridia | |
PDE6C | 10 | q23.33 | Achromatopsia | |
PDE6H | 12 | p12.3 | Achromatopsia | |
RD3 | 1 | q32.3 | Leber congenital amaurosis | |
RDH12 | 14 | q24.1 | Leber congenital amaurosis | |
RPE65 | 1 | p31.3 | Leber congenital amaurosis | |
RPGRIP1 | 14 | q11.2 | Leber congenital amaurosis | |
SLC24A5 | 15 | q21.1 | Oculocutaneous albinism type 6 | |
SLC45A2 | 5 | p13.2 | Oculocutaneous albinism type 4 | |
SPATA7 | 14 | q31.3 | Leber congenital amaurosis | |
TGFBI | 5 | q31.1 | Lattice corneal dystrophy type I | |
TULP1 | 6 | p21.31 | Leber congenital amaurosis | |
TYR | 11 | q14.3 | Oculocutaneous albinism type 1 | |
TYRP1 | 9 | p23 | Oculocutaneous albinism type 3 | |