RAWALPINDI, Feb 9 (ABC): Pakistan faces a growing child eye cancer burden and a high rate of inherited vision disorders. Al-Shifa Trust Eye Hospital has completed genetic testing for 139 patients from 91 families in one year.
The hospital launched the country’s first ophthalmic genetic testing lab in January 2025. The facility helps doctors identify genes that cause inherited blindness. Early detection improves treatment and protects children’s sight.
Dr Rutaba Gul, Geneticist at the Department of Ophthalmic Genetics, said inherited eye diseases affect nearly eight million people worldwide. However, Pakistan’s burden remains higher than the global average. She noted that no official national data currently exists.
Genetic testing enables early diagnosis
Doctors at the lab use advanced DNA testing to confirm the exact cause of eye disorders. The method provides faster and more accurate results. It also helps doctors plan targeted treatment.
Eye specialists refer patients based on symptoms and family history. After confirmation, families receive counseling about risks and future planning. This guidance helps prevent complications in other family members.
Early diagnosis also reduces the risk of severe vision loss and blindness.
Cousin marriages increase inherited risks
Health experts link the high rate of inherited diseases to cousin marriages. Such marriages remain common in many regions of Pakistan.
Research shows that more than 70 percent of inherited retinal disease cases occur in children born to closely related parents. Therefore, these disorders appear more frequently in Pakistan than in Europe, the United States, or other Asian countries.
Doctors encourage awareness and genetic counseling to lower future risks.
Hospitals treat 700 child eye cancer cases yearly
Prof Dr Tayyab Afghani, Head of the Orbit and Oculoplastics Department, said Pakistan also carries a heavy child eye cancer burden. Al-Shifa Trust hospitals treat around 700 children with eye cancer every year.
He said this number is nearly double the cases reported in India. Doctors stress that early detection improves survival rates and saves vision.
Free care and national expansion planned
Major General (Retd) Rehmat Khan, President of Al-Shifa Trust, said the hospital provides all genetic tests free of charge. The trust absorbs the high costs to support poor families.
Nearly 80 percent of patients receive free treatment at Al-Shifa hospitals in Rawalpindi, Chakwal, Kohat, Sukkur, Muzaffarabad, and Gilgit. The trust will open a new hospital in Lahore by 2027.
He added that the hospital plans to expand testing services and create a national database. The database will support early screening and future research.