Al-Shifa Traces Over 50 Genetic Eye Diseases in 18 Months
Families who spent years searching for answers to unexplained illnesses are finding hope at Al-Shifa Trust Eye Hospital, Rawalpindi. Its genetic testing has traced more than 50 genetic eye diseases in 18 months, giving families a diagnosis where repeated investigations had failed.
The hospital’s Department of Ophthalmic Genetics has analysed 297 people from 225 families, using specialised tests that examine DNA to find the causes of inherited and other genetic conditions. Many of the conditions had stayed undiagnosed despite years of tests and hospital visits.
The department is led by Dr Rutaba Gul, its head. It runs a functional genetic testing laboratory with a specialist team, and it has received referrals from more than 30 doctors across hospitals and cities, as well as from departments within Al-Shifa Trust Eye Hospital itself.
How genetic eye diseases are traced
Genetic testing can help doctors identify a disease when routine investigations fail. It can assess the risk of complications, guide treatment, and support targeted therapies or personalised medication. It can also cut unnecessary investigations and the costs that come with them.
These tests matter most for families affected by incurable genetic conditions. Even when no cure is available, finding the underlying cause helps doctors explain the disease, assess possible complications, and guide patients towards the right care.
The department is also building a genetic database of patients and families, to improve understanding of inherited conditions locally. It includes rare findings that could help doctors make better diagnoses for future patients.
A lab that has grown fast
The progress in 18 months builds on a laboratory that opened only in January 2025. In its first year, the lab completed genetic testing for 139 patients from 91 families with inherited eye conditions. That was a milestone for Pakistan’s first genetic testing laboratory dedicated to eye disorders.
By May 2026, the hospital had launched Pakistan’s first Ophthalmic Genetics Gene-Disease Variation Database. Developed under Dr Rutaba Gul and senior bioinformatician Abu Bakar, it records genetic mutations linked to inherited retinal diseases, congenital cataracts, glaucoma, and corneal dystrophies.
The work matters because Pakistan carries a heavy burden of inherited eye disorders. Consanguineous marriages, common in many regions, raise the risk of recessive genetic diseases: over 70 per cent of inherited retinal disease cases occur in children born to closely related parents. Al-Shifa Trust data puts hereditary and congenital conditions at 40 to 60 per cent of childhood blindness cases in Pakistan.
Testing is free at the hospital, even though a single genetic test can cost around Rs100,000 in the private sector. That cost puts it beyond the reach of many families. The Express Tribune reported that the hospital’s president, retired Major General Rehmat Khan, has said all genetic testing at the hospital is provided free of charge despite the high costs involved.
Health care beyond the big cities
The Al-Shifa work shows what specialist care can do when it reaches families across the country. Referrals have come from doctors in several cities, not only Rawalpindi, which means families who once travelled from hospital to hospital now have one place that can give them an answer.
Pakistan’s health system still faces wide gaps. The prime minister has allocated Rs6.8 billion to a national diabetes programme, and Japan has announced a $4.3 million grant for polio vaccines. At the same time, hospitals face their own problems: a medicines scam was reported at Sahiwal Teaching Hospital, while the Pak-China Friendship Hospital in Islamabad offers free emergency care.
Against that background, a free genetic testing service that gives families a firm diagnosis is a rare piece of good news. For the 225 families tested so far, the value is simple: they finally know what they are facing.
Frequently asked questions
What has Al-Shifa Trust Eye Hospital found?
Its Department of Ophthalmic Genetics has identified more than 50 genetic conditions in 18 months, after analysing 297 people from 225 families using DNA tests.
Who leads the department?
Dr Rutaba Gul heads the Department of Ophthalmic Genetics. The department runs a fully functional genetic testing laboratory with a specialist team.
Why does genetic testing help families?
It can identify a disease when routine tests fail, assess the risk of complications, guide treatment, and support targeted therapies. Even for incurable conditions, a diagnosis helps doctors explain the disease and plan care.
Why is Pakistan’s burden of inherited eye disease high?
Consanguineous marriages are common in many regions, which raises the risk of recessive genetic diseases. Over 70 per cent of inherited retinal disease cases in Pakistan occur in children born to closely related parents.
Is the testing free?
Yes. All genetic testing at Al-Shifa Trust Eye Hospital is provided free of charge, even though a single test can cost around Rs100,000 in the private sector.
