ogether, they accounted for around 28% of the outliers, offering new leads for understanding how rare mutations contribute to eye disease.
The findings provide an unprecedented resource for scientists studying the genetic roots of vision disorders, and are available to other researchers for access
They also offer a roadmap for future research into personalised treatments and earlier diagnosis.
Author Dr Jamie Ellingford, from The University of Manchester, said: “Our study marks a major step toward decoding the complex genetic architecture of the human eye.
“And it opens the door to new strategies for protecting and restoring vision in the future.
“It reveals how both common and rare genetic differences shape the way they are expressed in the human retina.
“By understanding these patterns, we move closer to uncovering the biological mechanisms that drive heritable vision loss and to developing more targeted therapies.”
PhD Student at The University of Manchester, Jacob Sampson, who performed the extensive computational analysis reported in the study, added: “We hope this dataset will accelerate discoveries across ophthalmology, genetics, and precision medicine.
“And we hope it will support efforts to identify individuals at risk of sight‑threatening disease before symptoms appear.
Prof Simon J. Clark from the University of Tübingen in Germany, said: “These sorts of fundamental discoveries are only possible by using very well characterised human donor material.
“We are incredibly lucky to have access to one of Europe’s largest human eye donor repositories, founded originally in Manchester back in 2015.
“We remain forever grateful for the generosity of all those donors and their families who contributed over the years.”
The team included scientists from The University of Manchester, Massachusetts Eye and Ear, Harvard Medical School, Broad Institute of Harvard and MIT, University of Tübingen, University of Southampton, Universitas Riau, Manchester University NHS Foundation Trust, and the European Bioinformatics Institute.
- The research was supported by the Macular Society, Fight For Sight, the Medical Research Council and the NIHR Manchester Biomedical Research Centre.
- The paper Paired DNA and RNA sequencing uncovers common 1 and rare genomic variants regulating gene 2 expression in the human retina is published in nature Communications and available here. DOI https://www.doi.org/10.1038/s41467-026-72979-4
“The University of Manchester is a public research university in Manchester, England. The main campus is south of Manchester City Centre on Oxford Road.”
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