摘要先天性白内障是儿童期视力损害的首要病因之一.随着分子生物学技术的发展,对遗传性先天性白内障相关基因的研究从致病基因定位及突变的筛查,逐渐发展到致病基因突变的机制探索.围绕先天性白内障相关基因研究的主题,本文着重对晶状体蛋白、缝隙连接蛋白、主要内源性蛋白基因等常见候选基因对白内障影响的机制进行归纳,并对先天性白内障相关基因在眼球发育过程、年龄相关性白内障、表观遗传学等其他领域的拓展研究进行阐述与展望.

abstractsCongenital cataracts is the leading cause of visual disability in children worldwide.With the evolution of molecular biological technique,the researches of inherited congenital cataract mainly focus on localization and fuction characterization of the disease-associated gene,including crystallin,connexin,major intrinsic protein gene,etc.And great progress has been made for such genes in eye development,age-related cataract,epigenetics study.Thus,great attention must be paid to the functional research about congenital cataract candidate gene.