Monday, December 20, 2021

Association Study Shows Early Link between AMD Genetic Risk Factors and Thinner Retinal Layers

Article: Warning signs of sight loss could be identified before vision deteriorates
Source: University of Southampton (U.K.)
Published: December 9, 2021 

The ISOS-RPE and RPE-BM layers (starred) are both
thinner in individuals with AMD genetic risk factors

Age-related macular degeneration (AMD) is a leading cause visual impairment and loss in Western countries, and especially among individuals 55 years of age and older. Researchers in the U.K. looked at medical records from the U.K. Biobank, which includes retinal scans and genetic data from over 30,000 patients. In particular, they compared the latest data of 34 known genetic risk factors of AMD (which together comprise 46% of the disease's genetic variance) with macular thickness, as measured with spectral-domain optical coherence tomography (SD-OCT). The authors report, "Our analysis has interestingly shown that, in the presence of high genetic risk for AMD, there is a significant decrease in the thickness of both the ISOS-RPE and the RPE-BM which may suggest that premature RPE thinning could be a major contributory factor." The inner-segment outer segment-retinal pigment epithelium (ISOS-RPE) thickness measurement, is of particular interest in that it represents the photoreceptor outer segments where light transduction takes place. The researchers conclude, "Our study highlights the premorbid influence of AMD genetic risk variants on macular thickness and may provide mechanistic insight into the pathophysiology of this debilitating disease." Because these structural changes occur prior to onset of disease symptoms or overt clinical signs, they could provide an early assessment of disease risk to guide healthy habits.

My rating of this study:

Kaye RA, Patasova K, Patel PJ, et al. "Macular thickness varies with age-related macular degeneration genetic risk variants in the UK Biobank cohort." Scientific Reports.  11:23255. 1 December 2021. https://doi.org/10.1038/s41598-021-02631-2 

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