Study details use of retinal imaging and genetics data to predict future disease risk


Researchers at Mass Eye and Ear have demonstrated that retinal imaging can help predict a person’s risk of developing ocular, neuropsychiatric, cardiac, metabolic, and pulmonary diseases.

(Image Credit: AdobeStock/Crystal light)

(Image Credit: AdobeStock/Crystal light)

It is often said that the retina serves as a window into a patient’s systemic health. In a new study in Science Translational Medicine,1 physician-researchers from Mass Eye and Ear, a member of Mass General Brigham, and the Broad Institute of MIT and Harvard combined retinal imaging, data and genetic to determine the likelihood that a person may develop eye and systemic diseases in the future.

The researchers uncovered key links between the thinning of different retinal layers and increased risk of developing ocular, cardiac, metabolic, neuropsychiatric, and pulmonary diseases and identified genes that are associated with retinal layer thickness.1

“We showed that retinal images could be used to predict the future risk of both ocular disease and systemic disease," first author Seyedeh Maryam Zekavat, MD, PhD, a Harvard Ophthalmology resident at Mass Eye and Ear and graduate student at Broad said in a news release.2 “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.”

Due to its placement in the eye, behind its transparent structures, the retina can be easily visualized and imaged without incisions. Ophthalmologists today routinely perform imaging and the study uncovers possibilities for preventative medicine and crosstalk between ophthalmologists and other areas of medicine.1

According to the Mass Eye and Ear news release, recent studies have indicated there are connections 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.2

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, pointed out that the researchers come to realize recently that there is a lot more information that they can get from retina images than what was first thought to be possible.

“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,” Zerbardast said in the news release.

Moreover, to pick out 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 watched for disease development for an average of 10 years.2

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,” Zebardast, who is also an associated scientist at Broad, added in the news release.

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.1

A key point from the research has been that multiple systemic health conditions including poor cardiac, metabolic, pulmonary, and renal function are linked to thinning of the photoreceptor segment of the retina, though further research would be needed to confirm causality. The researchers noted in the news release that future studies should also aim to replicate the study’s methods in more diverse populations and different age groups, since participants in the UK BioBank were predominantly white and aged 40 to 70 years old at baseline.

Moreover, the study is part of an ongoing effort at Mass Eye and Ear to identify genetic markers of glaucoma and other ocular diseases that might help to develop personalized risk scores and treatment plans for patients. As a standard of care in ophthalmology at Mass Eye and Ear and elsewhere, researcher noted the use of retinal OCT imaging could be widened.

Additonal work on the ties between ocular and cardiometabolic health will drive understanding of its clinical uses, and the Mass Eye & Ear researchers are extending this line of research along with co-author Pradeep Natarajan, MD, director of preventive cardiology at Massachusetts General Hospital, and an associate member in the Cardiovascular Disease Initiative at Broad.

“Patients come to us for their eye health, but what if we could tell them more than that?” Zebardast said in the news release. “What if we could use someone's retinal images to tell them, ‘You seem to have a high risk of having high blood pressure, maybe you should get screened, or maybe your primary care doctor should know about that.’”

The authors have developed an online user interface for all of their findings on the Ocular Knowledge Portal,3 to enable researchers to explore associations between retinal layer thickness, disease and genetics.

  1. Zekavat, SM et al. “Phenome- and genome-wide analyses of retinal optical coherence tomography images identify links between ocular and systemic health” Science Translational Medicine DOI: 10.1126/scitranslmed.adg4517.
  2. Retinal imaging and genetics data used to predict future disease risk. EurekAlert! Accessed January 26, 2024.
  3. Dataset Inspector | Common Metabolic Diseases Knowledge Portal. Accessed January 26, 2024.
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