Hereditary and congenital disorders represent approximately 40 to 60 percent of cases of child blindness in Pakistan, according to new findings of the Al-Shifa Trust Eye hospital.
Experts warn that the general lack of early genetic diagnosis leaves many permanently blind children, imposing an economic and long -term health load for families and the National Health System.
The data originates in the first department of Pakistan’s ophthalmic genetics, where the molecular geneticist Dr. Rutaba and a dedicated bioinformatic are decoding complex DNA mutations linked to serious pediatric ocular diseases.
His work has discovered previously undocumented genetic mutations associated with retinal degeneration, children’s cataracts and optical nerve abnormalities.
“Our goal is to identify the genetic root of each case and guide families about future risks,” said the senior consultant and head of the Oculoplastic Department, Dr. Tayyab Afghani.
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He stressed that, although global advances in gene therapy offer hope, most hereditary eye affections remain incurable, which makes early diagnosis and advice essential.
Al-Shifa specialists emphasize that the impact of childhood vision loss extends far beyond the individual. Children with non -diagnosed genetic conditions often face delayed schooling, limited mobility and social isolation, factors that run over time to restrict their economic potential.
In rural areas, where access to specialized care is even more limited, families frequently trust informal remedies or do not know that the condition can be inherited and preventable.
In Pakistan, where marriages within the family are common, the risk of inherited disorders is significantly greater. However, genetic tests are practically not available in public hospitals due to the lack of laboratory infrastructure and trained personnel.
Consequently, many children receive a diagnosis only after the loss of irreversible vision, affecting their education and future productivity.
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To address this gap, al-shifa trust now offers free genetic tests for patients referred through their hospital network, a service that generally costs around RS100,000 per person.
Since the department was launched, a select group of complex cases has analyzed, each that requires intensive DNA sequencing, to identify hereditary patterns and build a growing national genetic database.
Al-Shifa Trust urges families with children who suffer inexplicable or congenital vision problems to seek evaluation immediately.
Early genetic diagnosis not only improves clinical results, but also reduces the financial and emotional long -term cost of blindness in people and society.
