Localization And Cloning The Disease-associated Gene Of A Special Fasciculiform Congenital Cataract

Cataracts are a leading cause of blindness worldwide and congenital cataracts are a common eye disease in children, which has the incident rate of 6/1000~6/l0000. In the epidemiological study in Beijing, Tianjing and Shanghai, it is the secondary cause of all blindness in children, which is nearly 22~30%. Because these congenital cataracts result in cloudy imaging onto the retina, the abnormal development of visual cortical synaptic connections results in amblyopia, which causes affected children irreversible visual loss if without suitable intervention. The gene mutation is the most common reason and the offspring also have the risk to have the same disease. Prevention of visual impairment due to congenital cataract is an important component of the World Health Organization's (WHO) international program for the elimination of avoidable blindness by 2020.Both environmental factor and genetic factor can cause the congenital cataract. About 25%of all congenital cataracts are inherited. With the development of advanced molecular biological techniques, more and more congenital cataract disease-associated genes have been identified, including 1) crystalline genes, which changing the structure and array of lens fiber cells, i.e.