Abstract: Bietti crystalline dystrophy (BCD) is a specific kind of retinitis pigmentoas（RP） and is comparatively common in East Asia, particularly in China and Japan. BCD is inherited in an autosomal recessive inheritance mode and its disease-causing gene is CYP4V2. Majority previously published studies have described the phenotypic and genotypic characterization of BCD, however, we are still unclear on natural history of BCD patients and pathogenesis of BCD, which is very important to determinate time window of BCD gene therapy, evaluate outcome of clinical trials, and explore other treatment. （Ophthalmol CHN, 2020, 29: 84-86）

Key words: Bietti crystalline dystrophy, CYP4V2 gene, mutation