Hereditary and congenital disorders represent approximately 40 to 60% of infant-off cases in Pakistan, according to new conclusions from the Eye Trust Al-Shifa Trust hospital.
Experts warn that the general lack of early genetic diagnosis leaves many blind children, imposing long -term health and an economic burden for families and the national health care system.
The data comes from the first department of ophthalmic genetics in Pakistan, where the molecular geneticist Dr Rutaba and a dedicated bioinformatian uncheck complex DNA mutations linked to serious pediatric eye diseases.
Their work has discovered unprolarmed genetic mutations previously associated with retinal degeneration, infant cataracts and anomalies of the optic nerve.
“Our objective is to identify the genetic root of each case and to guide families on future risks,” said the main consultant and head of the oculoplastic department, Dr. Tayyab Afghani.
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He stressed that if the global progress of gene therapy offers hope, most of the hereditary eye conditions remain incurable, making an early diagnosis and essential advice.
Al-Shifa specialists emphasize that the impact of infantile vision loss extends far beyond the individual. Children with unsiagnosed genetic eye conditions are often faced with delayed education, limited mobility and social isolation, factors that are made up over time to restrict their economic potential.
In rural areas, where access to specialized care is even more limited, families often count on informal remedies or remain to be known that the condition can be inherited and avoidable.
In Pakistan, where weddings within the family are common, the risk of hereditary disorders is significantly higher. However, genetic tests are practically unavailable in public hospitals due to a lack of laboratory infrastructure and trained staff.
Consequently, many children only receive a diagnosis after an irreversible loss of vision, affecting their education and future productivity.
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To fill this gap, Al-Shifa Trust now offers free genetic tests for patients referred through its hospital network, a service which generally costs around 100,000 rupees per person.
Since the launch of the department, he has analyzed a limited group of complex cases – each requiring intensive DNA sequencing – to identify hereditary models and build a growing national genetic database.
Al-Shifa Trust urges families with children with unexplained or congenital vision problems to quickly search for the evaluation.
Early genetic diagnosis not only improves clinical results, but also reduces long -term financial and emotional assessment of blindness on individuals and society.
