New genetic map of the human eye could predict and prevent sight loss

Researchers have revealed the most detailed genetic map yet of the human eye, a breakthrough which could lead to earlier diagnosis and more personalised treatments for people with age-related macular degeneration (AMD).

The findings, led by scientists at The University of Manchester, could help explain why millions of people develop AMD as well as rarer inherited retinal diseases including Stargardt disease.

The study, part funded by the Macular Society and published in Nature Communications, analysed donated human eye tissue alongside whole-genome sequencing data from 201 individuals, allowing scientists to examine how genes are switched on and off in the retina.

This allowed researchers to study the retina, which detects light and helps us see, and the retinal pigment epithelium (RPE), a critical layer of cells at the back of the eye that nourishes and supports the retina's light-sensing cells.

Protecting and restoring vision 

The findings create an important new resource for scientists studying the genetic causes of sight loss, and the data will be available for other researchers to access. 

They could also support future research, helping researchers identify eye disease earlier and develop more personalised treatments.

Author Dr Jamie Ellingford (pictured), 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 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." 

Donating human eye tissue 

The study relied on one of Europe’s largest human eye donor repositories, developed with support from the Macular Society. Professor Simon J. Clark from the University of Tübingen in Germany acknowledged how this resource made the research possible. 

He added: “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.

Along with the Macular Society the research was also supported by Fight For Sight, the Medical Research Council and the NIHR Manchester Biomedical Research Centre.