Childhood Blindness: Genetic and Molecular Basis of Hereditary Congenital Cataract

Congenital cataracts are one of the major causes of vision loss in children worldwide. It can occur in an isolated fashion or as one component of a syndrome affecting multiple tissues. Congenital cataracts vary markedly in severity and morphology, affecting the nuclear, cortical, polar, or subcapsular parts of the lens, or in severe cases the entire lens. Fourteen loci have been associated with autosomal recessive cataracts with seven of these also causing autosomal dominant cataracts. Of these loci, mutations in nine genes have been found. however it is anticipated that the process of vision is mediated by the involvement of at least 200 genes. Identification of causative genes and information regarding their cellular functioning will potentially allow for more personalized medical care & Identification of the specific mutation will increase our understanding of lens biology and cataract at molecular level. Pakistani population provides an excellent resource material for the identification of genes and mutations causing vision impairment because of availability of large number of consanguineous families having many affected individuals.