The first genome-wide association study (GWAS) of macular thickness using UK Biobank data was published in 2019 and identified 139 significant loci( 31). Analyses using large, deeply-phenotyped datasets with associated retinal imaging offer the potential to gain new insights into pathophysiological processes and disease risk factors, as well as opportunities to identify novel biomarkers and therapeutic targets. Quantitative associations between retinal structure and systemic diseases demonstrate the predictive value of retinal measurements and have been particularly well characterized for cardiovascular and neurodegenerative diseases( 11, 27 - 30). This combined with the known physiological interactions between the retina and other organ systems makes retinal layer thickness measurement a potentially attractive addition to diagnostic, risk stratification, disease surveillance and treatment response assessment methods. ![]() The now automated delineation and measurement of OCT layers obviates the need for time-intensive manual layer segmentation, and is accurate and highly repeatable( 26). Modern spectral domain optical coherence tomography (OCT) allows the non-invasive, rapid capture of retinal measurements in exquisite detail (axial resolution 3-8μm) and is now routinely used in eye care settings, with high patient acceptability and minimal technical training requirements( 24, 25). Since the turn of the century, high-resolution retinal imaging modalities have been developed and iterated exponentially. The use of retinal findings is longstanding and commonplace in the assessment of both ocular and systemic diseases( 21 - 23). Within the human body, the retina is uniquely positioned posterior to optically clear structures, permitting in vivo visualization and imaging in ways not possible for any other tissue of its cellular complexity and composition. chronic kidney disease ( 18) and glomerulonephropathies( 19, 20)). pulmonary hypertension( 14), sleep apnea( 15, 16) and chronic obstructive pulmonary disease ( 17)) and renal diseases (e.g. dementia( 10, 11), stroke( 12) and multiple sclerosis ( 13)), pulmonary diseases (e.g. diabetes( 7), hypertension( 8) and coronary microvascular disease( 9)), neurological diseases (e.g. glaucoma( 5) and age-related macular degeneration ( 6)), cardiometabolic diseases (e.g. smoking( 2) and diet( 3)), genetics( 4), ocular conditions (e.g. Existing literature details the interaction between retinal cells and many factors including senescence( 1), environmental exposure (e.g. The human retina is an intricate, highly stratified central nervous system tissue responsible for phototransduction and the transmission of neuronal signals to the visual cortex. Retinal imaging biomarkers, integrated into electronic health records, may inform risk prediction and potential therapeutic strategies. Furthermore, systemic cardio-metabolic-pulmonary conditions promote retinal thinning. In conclusion, retinal layer thinning predicts risk of future ocular and systemic disease. Consistency between epidemiologic and genetic associations suggested putative causal links between thinning of the retinal nerve fiber layer with glaucoma, photoreceptor segment with AMD, as well as poor cardiometabolic and pulmonary function with PS thinning, among other findings. Genome-wide association of retinal layer thicknesses yielded 259 loci. Significant phenotypic associations were detected between retinal layer thinning and ocular, neuropsychiatric, cardiometabolic and pulmonary conditions. Independent associations with incident mortality were detected for photoreceptor thinning and ganglion cell complex thinning. And lastly, we performed comparative association of phenome- and genome- wide associations to identify putative causal links between systemic conditions, retinal layer thicknesses, and ocular disease. We performed genome-wide association analyses, identifying inherited genetic markers which influence the retina, and replicated our associations among 6,313 individuals from the LIFE-Adult Study. We performed phenome-wide association analyses, associating retinal thicknesses with 1,866 incident ICD-based conditions (median 10-year follow-up) and 88 quantitative traits and blood biomarkers. We conducted genome- and phenome-wide analyses of retinal layer thicknesses using macular OCT images from 44,823 UK Biobank participants. ![]() ![]() Optical coherence tomography (OCT) is widely used in eye care and allows the non-invasive, rapid capture of retinal measurements in exquisite detail. The human retina is a complex multi-layered tissue which offers a unique window into systemic health and disease.
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