Research Article
Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations
Table 2
Prevalence of mutations among 349 probands in this study.
| | Gene | Location | Probands () | Prevalence (%) | Disease category |
| | EYS | 6q12 | 82 | 23.5 | arRP | | RDS/PRPH2 | 6p21.1 | 16 | 4.6 | adRP, arRP, adMD* | | RHO | 3q22.1 | 7 | 2.0 | adRP, arRP | | CYP4V2 | 4q35.2 | 7 | 2.0 | Bietti crystalline dystrophy | | CRB1 | 1q31.3 | 5 | 1.4 | arRP, LCA | | RP11 | 19q13.42 | 4 | 1.2 | adRP | | GUCA1B | 6p21.1 | 4 | 1.2 | adRP | | PROM1 | 11q12.3 | 4 | 1.2 | adRP | | RPGR | Xp11.4 | 4 | 1.2 | xlRP | | ABCA4 | 1p22.1 | 3 | 0.9 | STGD† | | ROM1 | 11q12.3 | 3 | 0.9 | adRP, arRP | | CRX | 19q13.32 | 2 | 0.6 | adRP, CORD‡ | | CHM | Xq21.2 | 2 | 0.6 | Choroideremia | | GUCY2D | 17p13.1 | 2 | 0.6 | arRP | | RP2 | Xp11.23 | 2 | 0.6 | xlRP | | RP9 | 7p14.3 | 2 | 0.6 | adRP | | TOPORS | 9p21.1 | 2 | 0.6 | adRP | | USH2A | 1q41 | 2 | 0.6 | arRP | | CNGB3 | 8q21.3 | 1 | 0.3 | Cone dystrophy | | IMPDH1/RP10 | 7q32.1 | 1 | 0.3 | adRP | | MAK | 6p24.2 | 1 | 0.3 | arRP | | NR2E3 | 15q23 | 1 | 0.3 | ESC | | RDH5 | 12q13.2 | 1 | 0.3 | FA# | | RP1 | 8q12.1 | 1 | 0.3 | adRP, arRP | | RLBP1 | 15q26.1 | 1 | 0.3 | arRP | | SAG | 2q37.1 | 1 | 0.3 | Oguchi disease |
|
|
205 gene alterations were found in 349 probands.
*MD: macular dystrophy.
†STGD: Stargardt disease.
‡CORD: cone-rod dystrophy.
ESC: enhanced S-cone syndrome.
#FA: fundus albipunctatus.
|
