Evaluation of crystallins as a candidate gene for cataract

Abstract

Congenital Cataract is the leading cause of visual impairment worldwide, affecting ocular lens. Of the cataract mutations reported to date, about half the mutations occur in crystallins. The present study was carried out to investigate whether the variations in the human crystallins are related to congenital cataract in the Kashmiri population. Blood samples were collected and genomic DNA was extracted. Genotyping of SNPs in coding regions of the CRYAA, CRYAB, CRYBA1/A3, and CRYGC were performed by PCR and direct sequencing. No pathological mutation was detected upon sequencing of the coding regions in subjects with congenital cataract. This study found no evidence that crystallin gene is responsible for congenital cataract in these patients.