Association of Genetic Risk for Age-Related Macular Degeneration with Morphological Features of the Retinal Microvascular Network

Abstract

Background: Age-related macular degeneration (AMD) is a multifactorial disease encompassing a complex interaction between aging, environmental risk factors, and genetic susceptibility. The study aimed to determine whether there is a relationship between the polygenic risk score (PRS) in patients with AMD and the characteristics of the retinal vascular network visualized by optical coherence tomography angiography (OCTA). Methods: 235 patients with AMD and 97 healthy controls were included. We used data from a previous AMD PRS study with the same group. The vascular features from different retina layers were compared between the control group and the patients with AMD. The association between features and PRS was then analyzed using univariate and multivariate approaches. Results: Significant differences between the control group and AMD patients were found in the vessel diameter distribution (variance: p = 0.0193, skewness: p = 0.0457) and fractal dimension distribution (mean: p = 0.0024, variance: p = 0.0123). Both univariate and multivariate analyses showed no direct and significant association between the characteristics of the vascular network and AMD PRS. Conclusions: The vascular features of the retina do not constitute a biomarker of the risk of AMD. We have not identified a genotype–phenotype relationship, and the expression of AMD-related genes is perhaps not associated with the characteristics of the retinal vascular network.

Keywords

• age-related macular degeneration
• polygenic risk score
• optical coherence tomography angiography
• retinal image analysis
• retinal vascular network