Pakistan Faces High Childhood Blindness Rates Due to Genetic Disorders
Al-Shifa Trust urges early diagnosis, offers free testing to tackle vision loss
Genetic Disorders Behind Most Childhood Blindness in Pakistan
Recent research by Al-Shifa Trust Eye Hospital shows that hereditary and congenital disorders account for 40–60% of childhood blindness cases in Pakistan. Experts say the lack of early genetic testing leaves many children blind for life, creating a long-term health and economic burden on families and the healthcare system.
Groundbreaking Research in Ophthalmic Genetics
The findings come from Pakistan’s first Department of Ophthalmic Genetics, where Dr. Rutaba, a molecular geneticist, works with a bioinformatician to identify rare genetic patterns linked to pediatric eye disorders. Their research covers conditions like retinal degeneration, childhood cataracts, and optic nerve abnormalities.
“Every case is different and needs a unique approach,” said Dr. Tayyab Afghani, Senior Consultant and Head of the Oculoplastic Department. “Our goal is to counsel families on risks for future children.”
Why Early Diagnosis Matters
While gene therapy is advancing globally, most hereditary eye conditions remain untreatable. Early diagnosis and family counseling are critical to reducing blindness. Without treatment, children face limited education, mobility, and social opportunities, lowering their future economic productivity.
Rural Challenges and Social Factors
In rural areas, specialized services are rare. Many families turn to traditional remedies or fail to realize the condition is hereditary. Consanguineous marriages in Pakistan increase the likelihood of inherited disorders, yet genetic testing is almost absent in public hospitals due to poor infrastructure and a shortage of trained staff.
The Urgent Need for Action
Many children are diagnosed only after irreversible vision loss, reducing their chances of becoming active contributors to society. Experts at Al-Shifa stress that tackling genetic disorders causing childhood blindness must be a public health priority.
To bridge this gap, Al-Shifa Trust now provides free genetic testing for patients referred through its hospital network. This service, which usually costs around Rs100,000 per person, is now accessible without charge.
Since launching its Department of Ophthalmic Genetics, the hospital has studied a select number of complex cases. Each case involves detailed DNA sequencing to detect hereditary patterns and expand Pakistan’s growing genetic database.
Al-Shifa encourages families with children showing unexplained or congenital vision problems to seek evaluation as early as possible. Early genetic diagnosis not only improves treatment outcomes but also reduces the financial and emotional impact of blindness on both families and society.
