Genetic disorders drive childhood blindness in Pakistan

Express Tribune

5 days ago

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Hereditary and congenital disorders account for an estimated 40 to 60 per cent of childhood blindness cases in Pakistan, according to new findings from Al-Shifa Trust Eye Hospital.
Experts warn that the widespread lack of early genetic diagnosis leaves many children permanently blind, imposing a long-term health and economic burden on families and the national healthcare system.
The data originates from Pakistan's first Department of Ophthalmic Genetics, where molecular geneticist Dr Rutaba and a dedicated bioinformatician are decoding complex DNA mutations linked to severe paediatric eye diseases.
Their work has uncovered previously undocumented gene mutations associated with retinal degeneration, childhood cataracts and optic nerve abnormalities.
'Our goal is to identify the genetic root of each case and guide families on future risks,' said senior consultant and head of the Oculoplastic Department, Dr Tayyab Afghani.
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He emphasised that while global advances in gene therapy offer hope, most hereditary eye conditions remain incurable, making early diagnosis and counselling essential.
Specialists at Al-Shifa emphasise that the impact of childhood vision loss extends far beyond the individual. Children with undiagnosed genetic eye conditions often face delayed schooling, limited mobility and social isolation, factors that compound over time to restrict their economic potential.
In rural areas, where access to specialised care is even more limited, families frequently rely on informal remedies or remain unaware that the condition may be inherited and preventable.
In Pakistan, where marriages within the family are common, the risk of inherited disorders is significantly higher. However, genetic testing is virtually unavailable in public hospitals due to a lack of laboratory infrastructure and trained personnel.
Consequently, many children receive a diagnosis only after irreversible vision loss, affecting their education and future productivity.
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To address this gap, Al-Shifa Trust now offers free genetic testing for patients referred through its hospital network, a service that typically costs around Rs100,000 per person.
Since the department was launched, it has analysed a select group of complex cases - each requiring intensive DNA sequencing - to identify hereditary patterns and build a growing national genetic database.
Al-Shifa Trust urges families with children suffering unexplained or congenital vision problems to seek evaluation promptly.
Early genetic diagnosis not only improves clinical outcomes but also reduces the long-term financial and emotional toll of blindness on individuals and society.