Riggs型先天性静止性夜盲的分子机制及治疗研究进展  

Molecular Mechanism and Treatment Research Progress of Riggs Type Congenital Stationary Night Blindness

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：《医学综述》2020年第15期2918-2923,共6页Medical Recapitulate

基　　金：国家临床重点专科建设项目(20122632)。

摘　　要：Riggs型先天性静止性夜盲是一种眼科少见的视网膜退行性疾病,是由基因突变引起的非进行性遗传性视网膜病变,主要影响视网膜的信号处理光感受器细胞。Riggs型先天性静止性夜盲的病理改变是视网膜的感光细胞变性,此特征也是患者视力损害的主要原因。目前已知有4个基因的突变与Riggs型先天性静止性夜盲有关,此基因突变包括编码光转导和光电导的基因突变。目前尚无Riggs型先天性静止性夜盲的有效治疗方案,但正在进行的其他视网膜退行性疾病的临床试验可以为其治疗提供思路。Riggs type congenital night stationary blindness is a rare retinal degenerative disease which is a non-progressive genetic retinopathy caused by genetic mutations.It mainly affects the photoreceptor cells of the retina for signal processing.The pathological changes are photoreceptor degeneration of the retina,which is also the main cause of visual impairment in the patients.To date,four gene mutations have been discovered to be associated with Riggs type congenital stationary night blindness,including gene mutations that encode both phototransduction and photoconduction.At present,there is no effective treatment,but the ongoing clinical trial of other retinal degenerative diseases may provide ideas for the treatment of this disease.

关 键 词：Riggs型先天性静止性夜盲 基因突变 视紫红质 磷酸二酯酶-6β亚基 G蛋白转导蛋白1α亚基 可溶性载体家族24 A1亚型 

分 类 号：R776.1[医药卫生—眼科]