RAWALPINDI, Feb 09 (APP): Al-Shifa Trust Eye Hospital in Rawalpindi has completed genetic testing for 139 patients from 91 families in its first full year of operating Pakistan’s only dedicated genetic testing lab for eye disorders. The lab, which began work in January 2025, helps doctors diagnosing the exact genes responsible for inherited forms of vision loss.
According to Dr Rutaba Gul, geneticist in the Department of Ophthalmic Genetics, inherited eye conditions affect about eight million people worldwide. She said Pakistan’s share of these disorders is significantly higher than the global average, although exact national figures are not yet available.
The hospital’s Ophthalmic Genetics Department uses modern DNA testing to confirm the causes of inherited eye diseases. This allows doctors to make earlier and more accurate diagnoses. Dr Gul explained that one major reason for the high rate in Pakistan is the widespread practice of cousin marriages in many communities. Studies show that more than 70 percent of inherited retinal disease cases in the country involve children born to closely related parents. As a result, these conditions are far more common here than in Europe, the United States, or most other Asian countries.
Once a genetic diagnosis is made, families receive detailed counseling. This helps them understand the risks for other relatives and future children, as well as any available treatment or management options. Many of these disorders, if not identified early, can lead to serious vision impairment or complete blindness.
Separately, Prof Dr Tayyab Afghani, Head of the Orbit and Oculoplastics Department, highlighted another serious concern which is childhood eye cancer. He said Al-Shifa Trust hospitals treat around 700 children with eye cancer every year, almost double the number reported in neighbouring country.
Major General (Retd) Rehmat Khan, President of Al-Shifa Trust Eye Hospital, said all genetic testing is provided completely free of cost to patients, even though the tests are expensive. He added that the trust plans to expand the genetic testing program and create a national database. The database will help with early screening, better tracking of cases, and support for future treatment development.
He highlighted that nearly 80 percent of patients at Al-Shifa Trust hospitals receive free treatment. The trust currently operates facilities in Rawalpindi, Chakwal, Kohat, Sukkur, Muzaffarabad, and Gilgit.
A new hospital in Lahore is expected to open by the next year.