A recent study by Al-Shifa Trust Eye Hospital has revealed that 40 to 60 percent of vision impairment in children in Pakistan is due to hereditary and congenital diseases. Delayed diagnosis of these genetic conditions often leads to irreversible vision loss, placing a significant burden on families, society, and the country’s health infrastructure.
This information comes from the first “Department of Ophthalmic Genetics” established at Pakistan’s Al-Shifa Trust Eye Hospital. Molecular geneticist Dr. Rutba and a bioinformatics expert are evaluating the complex DNA variations affecting children’s vision. Their work has identified new genetic variations linked to retinal problems, juvenile cataracts, and optic nerve irregularities.
“Our goal is to identify the genetic basis of each case and counsel families about potential risks,” explained Dr. Taib Afghani, Senior Consultant and Head of the Oculoplastic Department. “While gene therapy is advancing globally, most inherited eye diseases remain incurable, making prompt identification and guidance crucial.”
He emphasized that the impact of childhood vision impairment extends beyond the individual. Children with undiagnosed conditions face educational difficulties, limited mobility, and social exclusion, affecting their future employment opportunities. In underserved rural areas, reliance on ineffective and sometimes harmful traditional remedies is widespread.
The likelihood of hereditary diseases is significantly higher in Pakistan due to the frequency of marriages between relatives. Genetic screening in government hospitals is limited, resulting in delayed identification, often after substantial or complete vision loss, hindering children’s education and prospects.
“To address this gap, we are offering free genetic screening worth Rs. 100,000 per individual,” Dr. Afghani stated. This effort also contributes to the creation of a national genetic repository. Early genetic identification not only improves treatment outcomes but also reduces the overall impact of vision impairment.