Al-Shifa launches Pakistan’s first ophthalmic genetics database

RAWALPINDI, (APP - UrduPoint / Pakistan Point News - 30th May, 2026) Al-Shifa Trust (AST) Eye Hospital has launched Pakistan’s first Ophthalmic Genetics Gene-Disease Variation Database, marking a significant step towards improving the diagnosis and treatment of inherited eye diseases through precision medicine and locally relevant research.

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

The initiative seeks to address a major gap in global genomic medicine, where most reference data is derived from European and East Asian populations and often fails to accurately reflect South Asian genetic patterns.

Pakistan carries a relatively high burden of inherited eye disorders, largely because consanguineous marriages increase the risk of recessive genetic diseases.

According to Al-Shifa Trust data, hereditary and congenital conditions account for between 40 and 60 per cent of childhood blindness cases in Pakistan.

Specialists believe earlier diagnosis through genetic screening could help identify at-risk children before symptoms worsen, improve family counselling and support future gene-therapy planning.

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President Al-Shifa Trust, Major General (Retd) Rehmat Khan, said the organisation planned to expand the initiative into a broader national database and integrate genetic screening services across its hospital network.

The hospital’s dedicated ophthalmic genetics laboratory, established in January 2025, has already provided free genetic testing to 150 patients from across the country, leading to the identification of 45 different eye-related genetic disorders, he said.

“This database is not just a scientific tool; it is a step toward better outcomes for future generations,” Dr Rutaba Gul said.

She said a single genetic test can cost around Rs100,000 in the private sector, placing it beyond the reach of many families.

Dr Rutaba said the initiative could help reduce avoidable disability, lower long-term treatment costs, and improve educational and employment opportunities for children living with inherited vision disorders, while also strengthening Pakistan’s contribution to global genomic research.