Current research in congenital cataract genes / 中华实验眼科杂志

ABSTRACT

Congenital cataract is the leading cause for low vision and blindness in infancy and childhood.One third of congenital cataract cases are associated with genetic mutation and hereditary,and the etiology of congenital cataract is heterogenous and its phenotype is variable.The known mutation genes include encoding structural lens protein,gap junction protein,membrane protein and lens-developing-related regulatory protein.Location and identification of mutation genes in congenital cataract patients are necessary for us to understand the molecular defects and pathophysiologic features of congenital cataract.With the development of molecular biology techniques,the study on the mechanism of congenital cataract has made great progress,which is helpful for us to further understand the heredity pattern as well as the influence of environment and nourishment to the metabolism of lens.The purpose of this review was to summarize the literature of current advance in the study on molecular genetic basis of congenital cataract.