Fig. 3
From: Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population
Overview of RPE65 mutations reported to date in the Chinese population and this study. Blank: missense mutation. Blue: splicing mutation. Red: frameshift mutation. Green: nonsense mutation. Variants in the black box are mutations associated with LCA. Variants in the blue box are mutations associated with RP. Variants in the green box are mutations associated with FAP. LCA: leber congenital amaurosis; RP: retinitis pigmentosa; FAP: fundus albipunctatus