Pakistan’s first ophthalmic genetics database launched

ISLAMABAD: Al-Shifa Trust Eye Hospital has launched what it says is Pakistan’s first Ophthalmic Genetics Gene-Disease Variation Database, aimed at improving the diagnosis and treatment of inherited eye diseases through precision medicine and research based on local genetic data.

The database was developed by the hospital’s Department of Ophthalmic Genetics under geneticist Dr Rutaba Gul and senior bioinformatician Abu Bakar. It documents mutations associated with inherited retinal diseases, congenital cataracts, glaucoma and corneal dystrophies.

The initiative is intended to fill what the hospital described as a significant gap in global genomic medicine, where most reference datasets are drawn from European or East Asian populations and may not accurately represent South Asian genetic patterns.

Pakistan faces a relatively high burden of inherited eye disorders because cousin marriages increase the risk of recessive genetic diseases. Al-Shifa data show hereditary and congenital conditions make up nearly 40% to 60% of childhood blindness cases in Pakistan.