RAWALPINDI: 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 initiative aims to address the country's disproportionately high burden of genetic eye diseases.

According to Al-Shifa Trust, the lab, launched in January 2025, assists doctors in identifying genes responsible for inherited vision loss, which affects roughly eight million people globally. Pakistan's genetic eye disease burden is substantially higher than the global rate, though no official data exists, said Dr. Rutaba Gul, Geneticist, Department of Ophthalmic Genetics.

The hospital's Department of Ophthalmic Genetics utilizes advanced DNA testing to confirm the causes of inherited eye diseases, enabling earlier and more precise diagnoses. The higher risk of such diseases in Pakistan is partly attributed to the prevalence of cousin marriages. Research indicates that over 70 percent of inherited retinal disease cases in Pakistan occur in children born to closely related parents.

The genetic lab diagnoses conditions that could lead to severe vision loss or blindness if untreated. Patients are referred to the genetics department based on symptoms and family history, and families receive genetic counselling once a cause is confirmed.

Additionally, Prof. Dr. Tayyab Afghani highlighted the significant burden of eye cancer among children in Pakistan, with Al-Shifa Trust hospitals treating around 700 children annually. This figure is about twice as many as in India.

Major General (Retd) Rehmat Khan, president of Al-Shifa Trust Eye Hospital, stated that all genetic testing at the hospital is provided free of charge. 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 across several cities, with a new hospital in Lahore scheduled to open by 2027.