Current research on molecular genetics of congenital cataract / 中华实验眼科杂志

ABSTRACT

Congenital cataract accounts for 10％ of childhood blindness worldwide and is the second leading cause of childhood blindness in China.30％-50％ of congenital cataract patients are caused by heritability,and majority of them is autosomal dominant traits.In addition,autosomal recessive and X-linked fashion also are found to lead to congenital cataract.Up to now,more than 20 disease-causing genes and 100 mutation locus have been mapped to different chromosomal locations in the human genome using genetic linkage methods.The cataract-associated genes were classified as four categories,including crystallin gene,membrane protein gene,transcription factor regulatory gene and others,and they induce different phenotypes of cataract by different molecular mechanisms.To understand the disease-causing genes and their mechanism is helpful for the genetic diagnosis and treatment of congenital cataract.The current researching progress in molecular genetics of cataract is summarized in this review.