遗传性白内障致病基因及其机制的研究进展

Current research in inherited cataract genes and molecular mechanism

先天性白内障是导致儿童失明的主要原因之一,占儿童致盲眼病的第2位。先天性白内障种类较多,且病因不同。随着分子生物学技术的发展,对于先天性白内障发病机制的研究有了很大的进展。遗传性白内障在先天性白内障中所占的比例较大,近来不断有致病基因被发现。就遗传性白内障的致病基因及其分子发病机制的研究进展进行综述。

Congenital cataract is a main cause of vision loss in childhood world wide and the secondary cause of blindness in infants. The etiology of congenital cataract is heterogenous and its phenotype is variable. With the development of molecular biology techniques, the research on the mechanism of congenital cataract has made great progress. Inherited isolated （nonsyndromic） cataract represents a significant proportion of cases and recently many causative genetic mutations have been identified. The research has been promoted by the extensive array of naturally occurring and genetically engineered mouse cataract models and abundance of human candidate genes investigation. The identification of genes causing inherited cataract will improve our understanding of underlying cataractogenesis in childhood. Therefore this review summarized the molecular mechanism of inherited cataract.