ABCA4基因相关视网膜变性类疾病研究进展  

ABCA4 gene related retinal degenerative diseases

作　　者：但汉东[1] 邢怡桥[1] DAN Handong;XING Yiqiao(Eye Center,Renmin Hospital of Wuhan University,Wuhan 430060,China)

机构地区：[1]武汉大学人民医院眼科中心,武汉430060

出　　处：《中华实用诊断与治疗杂志》2020年第3期315-317,共3页Journal of Chinese Practical Diagnosis and Therapy

基　　金：国家临床重点专科建设项目(20122632)。

摘　　要：ABCA4基因相关视网膜变性类疾病是由ABCA4基因突变导致的遗传性视网膜疾病,以光感受器和/或视网膜色素上皮细胞进行性退化为特征,主要包括Stargardt病、视锥视杆细胞营养不良和视网膜色素变性。本文就ABCA4基因的结构与功能,ABCA4基因相关视网膜变性类疾病的临床特征、分子生物学及基因治疗的研究进展作一综述。ABCA4-related degenerative retinopathy is a group of inherited retinal diseases caused by mutation in ABCA4 gene, characterized by progressive degeneration of photoreceptors and/or retinal pigment epithelium. It commonly includes Stargardt disease, cone-rod dystrophy, and retinitis pigmentosa. This paper reviews the research progress of the clinical features, molecular biology and genetic therapy of ABCA4-related retinal degenerative diseases.

关 键 词：ABCA4基因 STARGARDT病 视锥视杆细胞营养不良 视网膜色素变性 基因突变 

分 类 号：R774.1[医药卫生—眼科]