OCT imaging could be used to derive retinal markers for systemic and ocular health

According to a recent study published in SCIENCE TRANSLATIONAL MEDICINE, researchers identified multiple inherited genetic loci. They acquired systemic cardio-metabolic-pulmonary conditions associated with thinner retinal layers and identified retinal layers wherein thinning predicts future ocular and systemic conditions.

In the present study, researchers conducted genotypic and phenotypic analyses of retinal layer thicknesses using macular OCT images. They used data from 44,823 UK Biobank participants.

The study analysed retinal layer thicknesses using macular OCT images from UK Biobank participants. The researchers conducted OCT-XWAS to identify associations between retinal thicknesses, 1866 incident conditions, and 88 quantitative traits and blood biomarkers. They also performed GWAS to determine inherited genetic markers affecting retinal layer thicknesses and replicated their findings in the LIFE-Adult Study. Lastly, the study compared phenome- and genome-wide associations to identify potential causal links between retinal layer thicknesses and ocular or systemic conditions.

Key findings from the study are:

· Thinner photoreceptor segments and ganglion cell complex layers were independently associated with incident mortality.

· Phenotypic association was found between thinner retinal layers and ocular, neuropsychiatric, cardiometabolic, and pulmonary conditions.

· GWAS identified 259 unique loci for retinal layer thicknesses.

· Epidemiological and genetic associations suggested links between a thinner retinal nerve fibre layer with glaucoma, thinner PS with age-related macular degeneration, and poor cardiometabolic and pulmonary function with a thinner PS.

Zekavat and colleagues used retinal optical coherence tomography (OCT) images from the UK Biobank to perform a cross-phenotype analysis and identify associations between retinal layer thickness and incident ocular, neuropsychiatric, and cardiometabolic diseases. They found 259 loci linked to retinal layer thickness and concordant genetic and phenotypic associations between OCT retinal layer thickness and certain ocular and systemic conditions. These findings imply that OCT imaging could be used to derive retinal markers for systemic and ocular health, but further validation of clinical utility is needed.

Reference:

Zekavat et al. Phenome- and genome-wide analyses of retinal optical coherence tomography images identify links between ocular and systemic health. Science Translational Medicine, 16(731).