Fig. 1
From: Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population
a Distribution of different types of variants in the RPE65 identified in this study and reported in the Chinese population. b Distribution of the RPE65 mutations reported in the Chinese population. The number of mutations located in different exons is marked in black font, and those in introns are marked in red font. c Distribution of different types of variants in the RPE65 identified in LCA, RP, and FAP patients reported in the Chinese population. d. RPE65 variants associated with LCA, RP and FAP. A total of 39 variants have been reported to be associated with LCA, 23 with RP, and 8 with FAP. p.Pro467Ala was associated with LCA, RP and FAP, p.Arg44Gln was associated with both LCA and FAP, six variants were associated with both RP and LCA, and three variants were associated with both RP and FAP. LCA: leber congenital amaurosis; RP: retinitis pigmentosa; FAP: fundus albipunctatus