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Retinal imaging and genetics data used to predict future disease risk
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January 24, 2024
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<img src="https://www.nei.nih.gov/sites/default/files/styles/small/public/2024-01/NazleeZebardast_creditMEEI.jpeg?itok=zwSGipRA" alt="Scientist examines scientific images on a screen in a dark room." width="700" height="467">
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<p>Nazlee Zebardast, MD, MSc, director of Glaucoma Imaging at Mass Eye and Ear, examines OCT images. Image credit: Mass Eye and Ear</p>
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<p>The retina is said to provide a window into a person’s systemic health. In a new study published January 24<sup>th</sup> in <em>Science Translational Medicine</em>, 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, cardiac, pulmonary, metabolic, and neuropsychiatric diseases and identified genes that are associated with retinal layer thickness.</p><p>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.</p><p>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.</p>
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