Retinal imaging and genetics data used to predict future disease risk

The retina is said to provide a window into a person’s systemic health. In a new study published 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 (eye), neuropsychiatric, cardiac, metabolic, and pulmonary diseases. The team also identified genes associated with retinal thinning, which could help develop personalized treatment plans and future therapies for eye diseases such as glaucoma and macular degeneration. 

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 senior author Nazlee Zebardast, MD, MSc. The study also provides insight into the genes and biological pathways that determine retinal thickness, which could be leveraged to develop future therapies, the researchers say. Altogether, the team identified 259 genes that were associated with retinal thickness. 

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. First author Seyedeh Maryam Zekavat, MD, PhD, said, “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.” 

The authors caution that while multiple systemic health conditions including poor cardiac, metabolic, pulmonary, and renal function are linked to retinal thinning, further research would be needed to confirm causality. Future studies should also aim to replicate the study’s methods in more diverse populations and different age groups, since participants were predominantly white and aged 40-70 years old at baseline. 

Edited by Miriam Kaplan Ph.D. 

Source: Massachusetts Eye and Ear Infirmary, ScienceDaily, January 24, 2024; see source article