Genetic Research Reveals How the Eye's Fovea Develops for Clear Vision

Recent advancements in combining artificial intelligence with genetics have enabled scientists to examine the development of the eye’s fovea—the small pit at the back of the eye responsible for sharp central vision—in unprecedented detail. The University of Leicester, together with international partners and the University Hospitals of Leicester Trust's Ulverscroft Eye Unit, conducted the first comprehensive genome-wide study focusing on human foveal development. This groundbreaking research was supported by funding from the Wellcome Trust, Ulverscroft Foundation, and NIHR Leicester BRC, and has been published in Investigative Ophthalmology & Visual Science.

Using sophisticated AI analysis of eye scans from over 60,000 UK Biobank participants, the researchers identified over 120 genetic signals influencing how the fovea forms. Notably, 64 genes were discovered to be linked to foveal development for the first time, including pathways involved in vitamin A metabolism, retinal cell fate determination, blood vessel growth, and pigmentation. These findings explain why genetic conditions like albinism, aniridia, and other syndromes can lead to underdeveloped fovea and lifelong vision impairments.

The study also highlighted that systemic diseases such as Stickler syndrome, Refsum disease, Leber congenital amaurosis, and microcephaly–chorioretinopathy syndromes are associated with abnormalities in the fovea, indicating that the genetic influences extend beyond the eye. This comprehensive genetic map of foveal formation illustrates that eye development involves a spectrum of subtle genetic variations and rare mutations affecting visual outcomes.

Dr. Mervyn Thomas, a leading researcher and Clinical Associate Professor, emphasized that this work reveals new mechanisms in foveal development and advances understanding of childhood visual disorders. He noted the critical role of retinoic acid signaling, derived from vitamin A, in eye development—an area previously unexplored. These insights could pave the way for improved diagnosis and treatment of childhood visual impairments.

Supporting this research, Professor Mariya Moosajee of Moorfields Eye Hospital pointed out the importance of genetic testing and collaboration in expanding knowledge about eye diseases. The study is a testament to global scientific teamwork and the value of engaging young researchers like Ph.D. student Callum Hunt, whose efforts were instrumental.

Overall, this study provides the first genetic blueprint of foveal development, offering new perspectives on visual health and disease, and underscores the significance of genetic and developmental research for future therapies.

Source: https://medicalxpress.com/news/2025-09-genetic-eye-fovea-sharp-vision.html