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Purpose  Retinoid isomerohydrolase  RPE 65 has received a tremendous amount of attention due to successful clinical gene therapy for Leber congenital amaurosis ( LCA ) cases caused by   RPE 65  mutations. This study aimed to evaluate the frequency of   RPE 65  mutations and the associated phenotypes based on exome sequencing.    Methods    RPE 65  variants were collected from exome sequencing data obtained from 2133 probands with different forms of hereditary retinal degeneration ( HRD ). Clinical data were collected from probands with homozygous or compound heterozygous variants in   RPE 65 . Associated phenotypes were characterized based on clinical data.    Results  Biallelic   RPE 65  mutations were detected in 18 families, including eight with  LCA , five with early‐onset retinal degeneration, four with fundus albipunctatus‐like ( FA ‐like) changes and one with high hyperopia. These cases accounted for approximately 3.0% (8/269) of  LCA  and 0.8% (18/2133) of  HRD  cases. An almost identical  FA ‐like change was identified in seven patients from four unrelated families with   RPE 65  mutations. Classification of mutations suggested that  FA ‐like changes may be associated with biallelic missense mutations in   RPE 65 .    Conclusion  Fundus albipunctatus‐like (FA‐like) change, a common characteristic fundus sign in   RPE 65  biallelic mutations, was unexpected but was confirmed by the finding that affected siblings from different families exhibited similar phenotypes. These results enrich our understanding of   RPE 65  mutation frequencies and their associated phenotypic variants.

RPE 65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China