摘要
结晶样视网膜色素变性(Bietti crystalline dystrophy,BCD)是视网膜色素变性中的一种特殊类型,其在东亚人群特别是中国人和日本人中较为常见。BCD的遗传方式为常染色体隐性遗传,唯一的致病基因为CYP4V2。对BCD患者自然史和CYP4V2突变导致BCD机制研究,将对确定BCD患者基因治疗的时间窗、临床研究中治疗效果评定以及探索治疗BCD其他方法均至关重要。
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.
作者
李杨
Li Yang(Beijing Institute of Ophthalmology,Beijing Tongren Eye Center,Beijing Tongren Hospital,Capital Medical University,Beijing Key Laboratory of Ophthalmology and Visual Science,Beijing 100005,China)
出处
《眼科》
CAS
2020年第2期84-86,共3页
Ophthalmology in China
基金
国家重点研发计划(2016YFC0905200).