Hereditary and congenital suffering accounts for an estimated 40 to 60 percent of cases of blindness in childhood in Pakistan, according to new finds from Al-Shifa Trust Eye Hospital.
Experts warn that the widespread lack of early genetic diagnosis leaves many children permanently blind and introduces long -term health and financial burden for families and the national health system.
The data comes from Pakistan’s first department of ophthalmic genetics, where molecular geneticist Dr. Rutaba and a dedicated bioinformatician decode complex DNA mutations associated with serious pediatric eyes.
Their work has uncovered previously undocumented gene mutations associated with retinal degeneration, childhood cataracts and optical 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 emphasized that although global progress in gene therapy offers hope, most of the hereditary eye conditions remain incurable, making early diagnosis and counseling essential.
Specialists at al-Shifa emphasize that the effect of view of childhood extends far beyond the individual. Children with undiagnosed genetic eye conditions often face delayed schooling, limited mobility and social insulation, factors that compose over time to limit their financial potential.
In rural areas where access to specialized care is even more limited, families are often dependent on informal remedies or remain unaware that the condition may be inherited and preventable.
In Pakistan, where marriages in the family are common, the risk of hereditary disorders is significantly higher. However, genetic tests are hardly available in public hospitals due to lack of laboratory infrastructure and trained staff.
Therefore, many children only get a diagnosis after irreversible vision loss, which affects their education and future productivity.
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To tackle this hole, Al-Shifa Trust now offers free genetic tests for patients referred to through its hospital network, a service that typically costs about RS100,000 per day. Person.
Since the department was launched, it has analyzed a selected group of complex cases – each requiring intensive DNA sequencing – to identify hereditary patterns and build a growing national genetic database.
Al-Shifa Trust calls for families with children suffering inexplicable or congenital vision problems to seek evaluation immediately.
Early genetic diagnosis not only improves clinical results, but also reduces the long -term economic and emotional toll of blindness on individuals and communities.
