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.
作者
但汉东
邢怡桥
DAN Handong;XING Yiqiao(Eye Center,Renmin Hospital of Wuhan University,Wuhan 430060,China)
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)。
