先天性无脉络膜症及其与CHM基因的相关研究  

Congenital choroideremia and CHM gene

作　　者：林英[1] 柳夏林[1] 刘玉华[1] 刘奕志[1] 

机构地区：[1]中山大学中山眼科中心国家眼科学重点实验室,广州510060

出　　处：《国际眼科纵览》2013年第4期265-268,共4页International Review of Ophthalmology

基　　金：国家自然科学基金（30973277、81000371）;眼科学国家重点实验室青年基金（2011Q09）;广东省医学科学技术研究（B2012126）

摘　　要：先天性无脉络膜症是一种X链锁的以夜盲和进展性视野缩小为主要特征的严重眼病,致盲率较高,到目前已确定的致病基因为CHM基因.先天性无脉络膜从视网膜色素变性中分离出来已经有半个世纪,但在中国的研究还是空白.受累的男性初期表现为夜盲,进展性周边视野缺失,视野进行性变小.目前对于无脉络膜症尚无有效的治疗方法,总的治疗建议是尽量减少紫外线照射,保持健康的生活方式,也有部分有关营养和基于细胞的治疗研究.视网膜下腔移植自体虹膜色素上皮细胞有一定的治疗作用.Choroideremia （CHM） is known as a genetic heterogeneous X-linked recessive disease associated with different types of mutations in the CHM gene.Affected males develop night blindness in their teenage years,followed by loss of peripheral vision because of the progressive visual field constriction,and blindness.CHM has been recognized as clinically distinct from other retinal degenerations for more than half a century.So far,no effective treatment exists for either disease.General advice is offered to patients regarding minimizing their exposure to ultraviolet light and optimizing their general wellbeing through a healthy lifestyle.Some groups are now testing cell-based therapies.Transplantation of autologous transduced iris pigment epithelial （IPE） cells into the subretinal space might help CHM patients in the future.

关 键 词：先天性无脉络膜 CHM基因 突变 

分 类 号：R773.4[医药卫生—眼科]