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. 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.
