无虹膜症的临床特点及遗传学研究进展  

Research progress on clinical features and genetics of anirida

作　　者：魏习薇 陈蕾[1] 顾鸣敏[1] 

机构地区：[1]上海交通大学医学院医学遗传学教研室,200025

出　　处：《国际遗传学杂志》2015年第5期254-258,共5页International Journal of Genetics

基　　金：国家自然科学基金（30470951、31071107）

摘　　要：无虹膜症（anirida）是一种罕见的、可遗传的先天性眼部疾病之一，呈常染色体显性遗传，全球的发病率约为1／96000—1／64000。该症除无虹膜的表现外，常伴有白内障、青光眼及角膜病等眼部病变。PAX6基因突变是该病发生的主要原因。此外，FOXCl和PITX2等基因突变也可导致该病。文章在简述了无虹膜症临床特点的基础上，着重综述该病的突变热点及其分子机制。Anirida is one of rare, autosomal dominant, inherited congenital ocular diseases with a global prevalence from one in 64 000 to one in 96,000. It is commonly characterized with some de- grees of eye diseases, such as cataract, glaucoma, keratopathy and so on. Most cases are associated with mutations of the PAX6 gene. In addition, mutations of other genes, like FOXC1 and PITX2, also result in this disease. This article reviews the clinical manifestations, major mutation hotspots and the molecular mechanisms underlying aniridia.

关 键 词：无虹膜症 眼部病变 PAX6 突变 

分 类 号：R773.1[医药卫生—眼科]