遗传相关的先天性白内障基因突变的研究进展

白内障是由于各种原因引起晶状体代谢紊乱,导致蛋白质变性而发生混浊的一种眼部疾病。先天性的白内障尤为严重,它是影响婴幼儿视力发育的常见眼病,可以抑制视觉通路的发育,造成永久性失明。大约1/3病例与遗传相关,其中常染色体显性遗传为最多见的遗传方式,其发生发展与参与晶状体发育的基因均可能有关系。迄今为止,已经发现40多个基因上百个突变位点与先天性白内障相关。本综述将对先天性白内障的基因学研究进展进行讨论。

Research progress on genetic mutation of congenital cataract

Cataract is a kind of eye disease that causes lens metabolic disorder and protein degeneration and turbidity due to various reasons. Congenital cataract is especially serious. It is a common eye disease that affects the visual development of infants. It can inhibit the development of visual pathway and cause permanent blindness. About one-third of the cases are genetically related, of which autosomal dominant inheritance is the most common genetic mode. It''s occurrence and development may be related to genes involved in lens development. Up to now, hundreds of mutation sites in more than 40 genes have been found to be associated with congenital cataract. This article will review the genetic research progress of congenital cataract.