Study Reveals Ocular Disease Risk Through Retinal Imaging

A study by Harvard Medical School, Mass Eye and Ear, and the Broad Institute at MIT has shown connections between various retinal layer thinning and an elevated risk of disease. The findings could improve the use of OCT to forecast ocular disease and encourage more research on disease prediction outside the eye. It employed genetic data and OCT retinal pictures from hundreds of UK Biobank participants. 

More than 44,000 UK Biobank participants who had OCT retinal imaging and genotyping done in 2010 provided data for analysis by the researchers. After that, the subjects were monitored for an average of ten years. 

Using OCT scans from the UK Biobank, the team conducted a cross-phenotype analysis and found correlations between retinal layer thickness and the ocular, neuropsychiatric, and cardiometabolic disorders that the participants had over the course of a 10-year follow-up period. 

The researchers were also able to learn more about the genes and biological processes that affect retinal health thanks to the retinal images from the UK Biobank. Through genome-wide association studies, the researchers determined the inherited genetic markers that affect the retinal layer’s thickness. In order to find possible connections between retinal layer thickness and ocular and systemic diseases, they performed a comparative analysis of phenome- and genome-wide relationships. The researchers discovered 259 distinct loci connected to retinal layer thickness using genome-wide correlations. 

Senior author Nazlee Zebardast, director of Glaucoma Imaging at Mass Eye and Ear and an assistant professor of ophthalmology at Harvard Medical School, said, “We show that the thicknesses of these different layers are associated with different conditions. Each layer of the retina is made up of different types of cells with diverse structures and functions.” 

The researchers found a consistent pattern in the epidemiologic and genetic relationships that suggested a connection between age-related macular degeneration and a narrower photoreceptor segment and a thinner retinal nerve fiber layer and glaucoma, respectively. They also connected a thinner photoreceptor segment to impaired pulmonary, cardiometabolic, and cardiovascular performance. 

Zebardast stated, “We’ve discovered lately that we can extract a lot more information from our retinal images than we previously believed was feasible.” 

Previous research has shown connections between ageing and the health of the retina, as well as between neurological conditions like multiple sclerosis, dementia, and stroke, and cardiometabolic illnesses like diabetes and hypertension. The Mass Eye and Ear study examined the function of the various cell layers that make up the retina in addition to examining the genes that impact retinal health, in contrast to previous research that concentrated on the genes linked to general retinal health. 

Retinal OCT imaging is already a common clinical practice in ophthalmology, but the researchers think there is room for more applications. More research to determine the relationship between cardiometabolic health and ocular health will shed light on the usefulness of retinal OCT imaging as a therapeutic tool. 

Zebardast remarked, “People come to us for their eye health, but what if we could tell them more than that.” “What if we could use retinal images to inform someone that they appear to be at high risk for high blood pressure? Perhaps you should consider getting screened, or perhaps you should discuss this with your primary care physician?” 

The study is a component of Mass Eye and Ear’s continuous search for genetic indicators of eye disorders like glaucoma. 

Journal Reference  

Seyedeh Maryam Zekavat et al. ,Phenome- and genome-wide analyses of retinal optical coherence tomography images identify links between ocular and systemic health.Sci. Transl. Med.16,eadg4517(2024).DOI:10.1126/scitranslmed.adg4517