Rawalpindi: Al-Shifa Trust Eye Hospital has launched Pakistan's first Ophthalmic Genetics Gene-Disease Variation Database, a significant advancement in the diagnosis and treatment of inherited eye diseases through precision medicine and locally focused research. According to a press release, the database was developed by the hospital's Department of Ophthalmic Genetics under the leadership of Geneticist Dr. Rutaba Gul and Senior Bioinformatician Abu Bakar. It records mutations associated with inherited retinal diseases, congenital cataracts, glaucoma, and corneal dystrophies.
Addressing a Gap in Genomic Medicine
The initiative addresses a critical gap in global genomic medicine, where most reference data originates from European or East Asian populations and often fails to accurately represent South Asian genetic patterns. Pakistan faces a comparatively high burden of inherited eye disorders due to the prevalence of consanguineous marriages, which increase the risk of recessive genetic diseases. According to data from Al-Shifa, hereditary and congenital conditions account for nearly 40% to 60% of childhood blindness cases in Pakistan.
Benefits of Genetic Screening
Specialists believe that earlier diagnosis through genetic screening can help doctors identify at-risk children before symptoms worsen, improve family counselling, and support future gene-therapy planning. The hospital's dedicated ophthalmic genetics laboratory, established in January 2025, has already conducted free genetic testing for 150 patients across the country, leading to the identification of 45 different eye-related genetic diseases. Officials noted that each test can cost nearly Rs100,000 in the private market, making access difficult for many families.
President of Al-Shifa Trust, Maj Gen (Retd) Rehmat Khan, stated that the organization plans to expand the program into a broader national database and integrate genetic screening services across its hospital network. Dr. Rutaba Gul emphasized, "This database is not just a scientific tool; it is a step toward better outcomes for future generations." She added that 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 role in global genomic research.
