Table 2: Prevalence of mutations among 349 probands in this study.

GeneLocationProbands ()Prevalence (%)Disease category

EYS 6q12 8223.5arRP
RDS/PRPH2 6p21.1164.6adRP, arRP, adMD*
RHO 3q22.172.0adRP, arRP
CYP4V2 4q35.272.0Bietti crystalline dystrophy
CRB1 1q31.351.4arRP, LCA
RP11 19q13.4241.2adRP
GUCA1B 6p21.141.2adRP
PROM1 11q12.341.2adRP
RPGR Xp11.441.2xlRP
ABCA4 1p22.130.9STGD
ROM1 11q12.330.9adRP, arRP
CRX 19q13.3220.6adRP, CORD
CHM Xq21.220.6Choroideremia
GUCY2D 17p13.120.6arRP
RP2 Xp11.2320.6xlRP
RP9 7p14.320.6adRP
TOPORS 9p21.120.6adRP
USH2A 1q4120.6arRP
CNGB3 8q21.310.3Cone dystrophy
IMPDH1/RP10 7q32.110.3adRP
MAK 6p24.210.3arRP
NR2E3 15q2310.3ESC
RDH5 12q13.210.3FA#
RP1 8q12.110.3adRP, arRP
RLBP1 15q26.110.3arRP
SAG 2q37.110.3Oguchi 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.