RAWALPINDI, Feb 9 (ABC): Al-Shifa Trust Eye Hospital in Rawalpindi has completed genetic testing for 139 patients from 91 families with inherited eye conditions, marking one year since opening Pakistan’s first genetic testing lab dedicated to eye disorders.

The lab, launched in January 2025, assists doctors in identifying genes that cause inherited vision loss. These conditions affect roughly eight million people globally. Pakistan’s genetic eye disease burden is substantially higher than the global rate though no official exists, said Dr. Rutaba Gul, Geneticist, Department of Ophthalmic Genetics.

The hospital’s Department of Ophthalmic Genetics employs advanced DNA testing to confirm causes of inherited eye diseases. This technology enables earlier and more precise diagnoses, she added.

Pakistan’s higher risk of inherited eye diseases is partly due to cousin marriages, which are common in many regions. Research indicates that over 70 percent of inherited retinal disease cases in Pakistan occur in children born to closely related parents. Consequently, these disorders are more prevalent than in Europe, the United States, or other Asian countries.

The genetic lab diagnoses many conditions that, if left untreated, could lead to severe vision loss or blindness. Patients are referred to the genetics department by eye specialists based on symptoms and family history. Once a genetic cause is confirmed, families receive genetic counseling to understand the risks to other family members and future children, as well as available treatment options.

Additionally, Prof Dr. Tayyab Afghani, Head of the Orbit and Oculoplastics Department noted that Pakistan also faces a significant burden of eye cancer among children. Al-Shifa Trust hospitals treat around 700 children with eye cancer each year, approximately twice as many as in India.

All genetic testing at the hospital is provided free of charge, despite the high costs involved, said Major General (Retd) Rehmat Khan, president of Al-Shifa Trust Eye Hospital.

He added that the hospital plans to expand its genetic testing program and establish a national database to support early screening and future treatments. Nearly 80 percent of patients receive free care at Al-Shifa Trust hospitals in Rawalpindi, Chakwal, Kohat, Sukkur, Muzaffarabad, and Gilgit. A new hospital in Lahore is scheduled to open by 2027.