by Massachusetts Eye and Ear Infirmary
Senior study author Nazlee Zebardast, MD, MSc, director of Glaucoma Imaging at Mass Eye and Ear, examines OCT images. Credit: Mass Eye and Ear
The retina is said to provide a window into a person’s systemic health. In a new study published January 24 in Science Translational Medicine, physician-researchers from Mass Eye and Ear, a member of Mass General Brigham, and the Broad Institute of MIT and Harvard combined retinal imaging, genetics and big data to estimate how likely a person is to develop eye and systemic diseases in the future.
They found significant associations between the thinning of different retinal layers and increased risk of developing ocular, neuropsychiatric, cardiac, metabolic, and pulmonary diseases and identified genes that are associated with retinal layer thickness.
“We showed that retinal images could be used to predict the future risk of both ocular disease and systemic disease,” says first author Seyedeh Maryam Zekavat, MD,Ph.D., a Harvard Ophthalmology resident at Mass Eye and Ear and graduate student at Broad.
“This could potentially help with disease prevention—if we know from someone’s retinal image that they are at high risk of developing glaucoma or cardiovascular disease in the future, we could refer them for follow-up screening or preventative treatment.”
Because of its position behind the transparent structures of the eye, the retina is easy to visualize and image non-invasively, and retinal imaging is already a routine procedure in ophthalmology. The new study uncovers possibilities for preventative medicine and crosstalk between ophthalmologists and other areas of medicine.
Previous studies have shown that there are links between retinal health and health conditions including aging, cardiometabolic diseases such as diabetes and hypertension, and neurological diseases such as dementia, stroke, and multiple sclerosis.
“We’ve come to realize recently that there is a lot more information that we can get from our retina images than we thought was possible,” says senior author Nazlee Zebardast, MD, MSc, director of Glaucoma Imaging at Mass Eye and Ear and an assistant professor of ophthalmology at Harvard Medical School.
“It’s really exciting to be able to see that these images, which are obtained without having to do any sort of invasive procedure, are associated with so many systemic conditions, both at a genetic level as well as an epidemiologic level.”
To identify associations between retinal health and disease risk, and to identify genes associated with retinal health, the researchers analyzed data from 44,823 UK Biobank participants who underwent optical coherence tomography (OCT) imaging of the retina, genotyping, and baseline measurements of health in 2010 and were then followed for disease development for an average of 10 years.
Unlike previous studies that searched for genes associated with overall retina health, this study delved deeper into the role of the different cell layers that make up the retina.
“Each layer of the retina is made up of different types of cells with diverse structures and functions, and we show that the thicknesses of these different layers are associated with different conditions,” says Zebardast, who is also an associated scientist at Broad.
Retinal imaging and genetics data used to predict future disease riskStudy co-first authors Drs. Seyedeh Maryam Zekavat and Saman Doroodgar Jorshery examine data and retinal thickness images. Credit: Mass Eye and Ear
The study also provides insight into the genes and biological pathways that determine retinal health, which could be leveraged to develop future therapies, the researchers say. Altogether, the team identified 259 genetic loci that were associated with retinal thickness.
More information: Seyedeh M Zekavat et al, Phenome- and genome-wide analyses of retinal optical coherence tomography images identify links between ocular and systemic health, Science Translational Medicine (2024). DOI: 10.1126/scitranslmed.adg4517. www.science.org/doi/10.1126/scitranslmed.adg4517
Journal information: Science Translational Medicine
Provided by Massachusetts Eye and Ear Infirmary
Leave a Reply