Molecular genetics of congenital cataract

Abstract:

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.

Key words:congenital cataract; gene; mutation