Rawalpindi: Hereditary and congenital disorders are responsible for an estimated 40 to 60 percent of childhood blindness cases in Pakistan, according to recent findings from Al-Shifa Trust Eye Hospital. Experts caution that the lack of early genetic diagnosis often results in permanent blindness for many children, creating significant health and economic challenges for families and the national healthcare system.
Researchers at Pakistan’s first Department of Ophthalmic Genetics, including molecular geneticist Dr. Rutaba, are working to decode complex DNA mutations associated with severe pediatric eye diseases. Their research has identified previously undocumented gene mutations linked to retinal degeneration, childhood cataracts, and optic nerve abnormalities.
Dr. Tayyab Afghani, senior consultant and head of the Oculoplastic Department, stated, “Our goal is to identify the genetic root of each case and guide families on future risks.” He noted that although advances in gene therapy provide hope, most hereditary eye conditions remain incurable, underscoring the importance of early diagnosis and counseling.
Specialists at Al-Shifa stress that childhood vision loss affects more than just the individual. Children with undiagnosed genetic eye conditions often experience delayed schooling, limited mobility, and social isolation, which further limits their economic potential. This issue is especially pronounced in rural areas, where access to specialized care is scarce, leading families to rely on informal remedies or remain unaware of the hereditary nature of these conditions.
Genetic testing is virtually unavailable in public hospitals in Pakistan due to insufficient laboratory infrastructure and trained personnel. Consequently, many children are diagnosed only after experiencing irreversible vision loss, impacting their education and future productivity.
To address this issue, Al-Shifa Trust now offers free genetic testing for patients referred through its hospital network, a service that typically costs around Rs100,000 per person. Since the department’s inception, they have analyzed complex cases requiring intensive DNA sequencing to identify hereditary patterns and contribute to a growing national genetic database.
Al-Shifa Trust urges families with children facing unexplained or congenital vision problems to seek evaluation promptly. Early genetic diagnosis not only improves clinical outcomes but also alleviates the long-term financial and emotional burden of blindness on individuals and society.