Inherited Genetic Loci Identified for Thinner Retinal Layers Using Optical CT

MONDAY, Jan. 29, 2024 (HealthDay News) -- Multiple inherited genetic loci for thinner retinal layers have been identified using macular optical computed tomography (OCT), and these are associated with ocular, neuropsychiatric, cardiometabolic, and pulmonary conditions, according to a study published in the Jan. 24 issue of Science Translational Medicine.

Seyedeh Maryam Zekavat, M.D., Ph.D., from Harvard Medical School in Boston, and colleagues conducted genotypic and phenotypic analyses of retinal layer thicknesses using macular OCT images from 44,823 U.K. Biobank participants. OCT layer cross-phenotype association analyses were performed, associating retinal thickness with 1,866 incident conditions (during a median follow-up of 10 years) and 88 traits and blood biomarkers. Inherited genetic markers that influence retinal layer thicknesses were identified, and the associations were replicated among 6,313 participants in the LIFE-Adult Study.

The researchers found that for thinner photoreceptor segments (PSs) and separately for ganglion cell complex layers, there were independent associations with incident mortality. Thinner retinal layers were associated phenotypically with ocular, neuropsychiatric, cardiometabolic, and pulmonary conditions. A total of 259 unique loci were identified in genome-wide association analyses. Putative causal links between a thinner retinal nerve fiber layer and glaucoma and between thinner PS and age-related macular degeneration and poor cardiometabolic and pulmonary function were suggested by consistency between epidemiologic and genetic associations.

"Our results add to existing evidence to support the use of retinal OCT imaging parameters as biomarkers for systemic and ocular diseases," the authors write.

Several authors disclosed ties to the biopharmaceutical and medical device industries.

Abstract/Full Text (subscription or payment may be required)