【摘要】 先天性白内障(congenital cataract)是儿童常见的致盲性眼病,发病机制多种多样,其中约1/3的患者与遗传有关,常见的为外显率较高的常染色体显性遗传,但也有过X连锁和常染色体隐性遗传方式的报道。现已明确了先天性白内障的十四个基因,二十几个独立位点上的突变,其中有十四个基因已被完全克隆出来。基因遗传学的研究,有助于揭示先天性白内障的发病机制,进一步了解遗传,环境及营养等因素对晶状体代谢的影响。更多还原

【Abstract】 Congenital cataract is the leading cause for children’s blindness in most countries.Approximately one third of all the cases of congenital cataract are familial,and autosomal dominant congenital cataracts(ADCC) appear to be the most common type.Autosomal recessive and X-linked forms are also seen but are peculiar.At least 14 genes and more than 20 distinct loci have been identified for various primary forms of ADCC.The molecular characterization of different phenotypes is not only important for the identification of the virulent genes involved in congenital lens opacification,but for the further understanding about the influence of heredity,environment and nourishment to the metabolism of lens.更多还原