中文摘要：

任何影响晶状体透明性的因素均可导致白内障。由于先天性白内障阻挡视通路，阻碍视觉发育，可能会导致终生弱视，所以先天性白内障的早期诊断与治疗尤为重要。将近一半的先天性白内障与遗传有关，白内障可以孤立存在，也可以合并眼部其他异常，或者作为多系统综合征的一部分。基因技术的发展和连锁分析的应用，大大提高了先天性白内障致病基因筛查和定位的效率，对发病机制的认识日渐清晰。到目前为止已发现三十多种致病基因和上百个突变位点与先天性白内障有关。本文就这些致病基因的研究进展进行综述。

英文摘要：

· Cataract can be defined as any opacity of the crystalline lens. Congenital cataract is particularly serious because it has the potential for inhibiting visual development, resulting in permanent blindness. Approximately half congenital cataract is inherited, either in isolation or as part of a syndrome of ocular or systemic anomalies. Advances in genetic technology and analytical algorithms have greatly accelerated elucidation of the genetic contribution to cataractogenesis. Currently, more than thirty specific genes and hundreds of loci have been identified by linkage analysis or mutational screening. In this paper, research progresses of these disease-causing genes were reviewed.