Combining artificial intelligence (AI) and genetics has allowed researchers to carry out the first ever genome-wide study of the human fovea, that part of the eye responsible for sharp central vision.
The researchers from the University of Leicester, University Hospitals of Leicester Trust through the Ulverscroft Eye Unit, together with international collaborators, used AI to analyse eye scans from over 60,000 United Kingdom Biobank participants and identify more than 120 genetic signals that shape how the fovea develops.1
Remarkably, the team discovered 64 genes never before linked to the fovea, including pathways involved in vitamin A metabolism, retinal cell fate, vascular development, and pigmentation.
The study shows that both common and rare genetic variants influence whether the fovea forms normally, helping explain why conditions such as albinism, aniridia, and other genetic syndromes cause foveal underdevelopment and lifelong vision problems.
These discoveries fundamentally change our understanding of how the back of the eye develops and open up new avenues for diagnosing and treating childhood vision loss.
Importantly, the team also demonstrated that foveal abnormalities are present in systemic diseases such as Stickler syndrome, Refsum disease, Leber congenital amaurosis with early-onset deafness, and microcephaly–chorioretinopathy syndromes, extending the clinical impact far beyond the eye.
This landmark work provides the first genetic map of foveal formation and suggests a continuum model of eye development, where both subtle genetic variation and rare mutations can affect visual outcomes.
Dr Mervyn Thomas, from the University of Leicester, led the study. He said the findings provide “the first comprehensive genetic dissection of human foveal pit architecture, revealing entirely new biological mechanisms that shape foveal development and extending our understanding of childhood visual disorders”.
“These discoveries fundamentally change our understanding of how the back of the eye develops and open up new avenues for diagnosing and treating childhood vision loss.”
The study was published in Investigative Ophthalmology and Visual Science.2
Reference
- University of Leicester, Landmark genetic study sheds new light on how the eye develops its sharpest vision (news release, 18 Sept 2025) available at: le.ac.uk/news/2025/september/eye-genetic-study-foveal-leicester [accessed 22 Sept 2025].
- Hunt C, Yoon HJ, Thomas MG; UK Biobank Eye and Vision Consortium. Genome-wide insights into the genes and pathways shaping human foveal development: Redefining the genetic landscape of foveal hypoplasia. Invest Ophthalmol Vis Sci. 2025 Sep 2;66(12):22. doi: 10.1167/iovs.66.12.22.
