First reported by Bietti in 1937(Bietti,1937),Bietti crystalline corneoretinal dystrophy(BCD,OMIM 210370)is a rare,autosomal recessively inherited progressive retinal disease.The disease is more common in Asian popula...First reported by Bietti in 1937(Bietti,1937),Bietti crystalline corneoretinal dystrophy(BCD,OMIM 210370)is a rare,autosomal recessively inherited progressive retinal disease.The disease is more common in Asian populations,particularly in Chinese and Japanese(Li et al.,2004).The prevalence of BCD is estimated at 1 in 67,000,representing around only 21,000 individuals in China(Ng et al.,2016).CYP4V2 was identified as the disease-causing gene in 2004.It encodes a member of the cytochrome P450 family 4.展开更多
基金supported by the National Natural Science Foundation of China (81873687)the Beijing Natural Science Foundation (7212071)+1 种基金the Fundamental Research Funds for the Central Universities (3332020015)Youth Program of Peking Union Medical College Hospital (pumch201911263)
文摘First reported by Bietti in 1937(Bietti,1937),Bietti crystalline corneoretinal dystrophy(BCD,OMIM 210370)is a rare,autosomal recessively inherited progressive retinal disease.The disease is more common in Asian populations,particularly in Chinese and Japanese(Li et al.,2004).The prevalence of BCD is estimated at 1 in 67,000,representing around only 21,000 individuals in China(Ng et al.,2016).CYP4V2 was identified as the disease-causing gene in 2004.It encodes a member of the cytochrome P450 family 4.
