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.

Autorentext

Dr Afshan Yasmeen is Ass.Prof. at CEMB, University of the Punjab, Lahore, Pakistan. She worked on Bacterial/Plant genomics. By linkage analysis on cataract affected families, identified mutations & mapped new loci/genes. Provided services of DNA testing in criminal cases and as QMR, prepare docs & got ISO 9001-2008 certification for her Institute.