Two New Studies Reveal the Eye as a Window to Genetic Health and Systemic Disease
Two independent studies published in June 2025 have provided new data on the genetic basis of eye function and the potential for eye scans to indicate broader health risks. One study mapped how genetic variations affect gene expression in the human retina, while another used artificial intelligence to link eye scan features to cardiovascular and neurological conditions.
Genetic Mapping of the Human Retina
An international team led by the University of Manchester has created a detailed map of how genetic differences influence gene expression in the human eye, publishing their findings in Nature Communications.
“This study marks a major step toward decoding the genetic architecture of the human eye and opens the door to new strategies for protecting and restoring vision.” — Dr. Jamie Ellingford, University of Manchester
Key Details
- The study analyzed whole-genome sequencing data and RNA profiles from 201 donated human eyes.
- Researchers examined two key tissues: the neurosensory retina (responsible for capturing light) and the retinal pigment epithelium (which supports and nourishes the retina).
- The team identified over 1.4 million expression quantitative trait loci (eQTLs) that influence how genes are activated.
- These signals affect nearly 10,000 genes in the retina and almost 4,000 genes in the retinal pigment epithelium.
- The study also found nearly 300 rare genetic variants that could explain unusual gene activity in certain individuals.
Background
- Age-related macular degeneration (AMD) is a leading cause of visual impairment in adults. Epidemiological research predicts it will affect 288 million people worldwide by 2040.
- Inherited eye disorders such as Stargardt disease, retinitis pigmentosa, and cone-rod dystrophy also interfere with retinal cell function.
Statements from Researchers
- PhD student Jacob Sampson, who performed the computational analysis, expressed hope that the dataset will accelerate discoveries in ophthalmology, genetics, and precision medicine.
- Prof. Simon J. Clark from the University of Tübingen noted that such discoveries are only possible using well-characterized human donor material and expressed gratitude to donors and their families.
Funding and Collaboration
- The research was supported by the Macular Society, Fight For Sight, the Medical Research Council, and the NIHR Manchester Biomedical Research Centre.
- 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 paper is published in Nature Communications (DOI: 10.1038/s41467-026-72979-4), and the dataset is available for other researchers.
AI Analysis of Eye Scans Linked to Systemic Disease Risk
A separate study led by researchers at The University of Manchester used an AI tool called "Ret-AAE" to analyze data from over 68,000 UK Biobank participants. The findings were published in Nature Cardiovascular Research on June 16, 2025.
“The findings show the eye can reveal a broad picture of whole-body health.” — Dr. Tom Julian, Lead Author
Key Findings
- The study found associations between eye scan features (optical coherence tomography [OCT] and colour fundus photographs) and the risk of heart failure, high blood pressure, heart attack, Parkinson's disease, dementia, and other conditions.
- OCT scans were more strongly linked to neurological traits, while colour fundus photographs had broader associations with cardiovascular traits.
- Genetic analyses linked eye features to genes involved in neurodegenerative disease pathways.
- Physiological analyses linked eye features to blood pressure, blood vessel stiffness, and heart function.
- Radiomic analyses showed associations between eye features and brain size, as well as microstructural changes in brain tissue.
Implications
- The authors suggest that routine eye scans, widely available at optometrists, could potentially be used for early detection of heart and brain disease.
- Dr. Panos Sergouniotis noted that more work is needed before such tests become common practice.
- Professor Alejandro Frangi stated that an eye test could become more than just checking glasses prescription.
Funding
- Funders included the Medical Research Council, the Wellcome Trust, the British Heart Foundation, the Royal Academy of Engineering, and the NIHR Manchester Biomedical Research Centre.