A landmark study using data from the Emirati Genome Programme (EGP) has revealed important new insights into how genetic variations influence the risk of inherited retinal diseases (IRDs).¹ The findings challenge longstanding assumptions about genetic risk and offer a pathway toward more accurate prediction, early intervention, and personalized care for patients in the United Arab Emirates, according to a report in Abu Dhabi's National News.²

The research, described as one of the largest population-scale genomic studies of its kind, analysed genetic and health-record data from more than 500,000 Emirati nationals. By linking whole-genome sequences to electronic health records through Abu Dhabi’s Malaffi health platform, scientists were able to measure how often specific genetic variants previously associated with retinal disease actually lead to vision loss in real-world clinical settings.

One of the key findings of the study is that having a genetic variant associated with inherited retinal disease does not guarantee that an individual will develop vision impairment. Researchers found that fewer than 20% of individuals identified as genetically at risk had documented vision loss in their medical records, underscoring the concept of “penetrance, ”the proportion of individuals with a genetic variant who actually express the disease.

By studying tens of thousands of genomes alongside detailed family pedigrees, the research team was also able to reclassify more than 200 genetic variants that had previously been labeled as of “uncertain significance,” either dismissing them as non-harmful or confirming their disease-associated status. Such clarity may reduce anxiety for patients and help clinicians focus monitoring and preventive care on those most likely to benefit.

Among the strongest findings was evidence supporting the disease association of variants in the ABCA4 gene, which has been linked to Stargardt disease. The national data set confirmed consistent patterns of risk across the population, particularly in children who inherited the same variant from both parents.

The researchers say the study could have wide-ranging implications. By establishing a more accurate understanding of variant penetrance at a national level, healthcare providers in the UAE and elsewhere can refine screening guidelines, improve genetic counselling, and tailor care more precisely to individual risk profiles.

While the study itself does not involve direct contact with individuals identified as genetically at risk, it provides a strong scientific foundation for future public health strategies, screening programmes, and preventive interventions.

References

1. Alkaf B, Jha A, Saad A, et al. The Emirati Genome Program Enables Population-wide Penetrance Estimation and Novel Discovery for Inherited Retinal Disease. medRxiv. https://doi.org/10.1101/2025.10.14.25337784. 

2. The National News. “Emirati Genome Programme data reveals variations in risk of inherited vision loss." https://www.thenationalnews.com/news/uae/2026/02/20/emirati-genome-programme-data-reveals-variations-in-risk-of-inherited-vision-loss/.  February 20, 2026.