先天性白内障是儿童常见的致盲性眼病。与遗传有关的先天性白内障有多种遗传方式,其致病基因、基因突变的位点和引起先天性白内障的表现型相继被发现。到目前为止,分子遗传学的研究证明与先天性白内障有关的致病基因有16个,共有40多个基因位点与先天性白内障有关。先天性白内障的基因型和表现型的关系逐步明确,使先天性白内障的基因诊断,特别是产前诊断成为可能。 Congenital cataract is a common blinding eye disease in children. Genetic and genetic congenital cataracts have a variety of genetic methods, the pathogenic genes, mutations in the site and lead to congenital cataract phenotype have been found. So far, molecular genetics studies have shown that there are 16 pathogenic genes associated with congenital cataracts, a total of more than 40 gene loci and congenital cataract related. The relationship between genotypes and phenotypes of congenital cataracts is gradually clarified, which makes genetic diagnosis of congenital cataracts, especially prenatal diagnosis possible.