Genetic Risk and OCT-Based Phenotypic Associations in Age-Related Macular Degeneration.

ABSTRACT:

Purpose

The risk for developing age-related macular degeneration (AMD) is associated with multiple genetic variants. We aim to evaluate the association of AMD genetic risk variants with specific features of the disease detected by OCT.

Design

A retrospective cross-sectional study.

Participants

Subjects diagnosed with AMD and healthy controls (>50 years of age) from a single tertiary referral center.

Methods

Genotyping of 52 single nucleotide polymorphisms associated with AMD was analyzed in 578 patients. Weighted genetic risk scores (WGRSs) were calculated for variants in genes encoding proteins involved in the complement cascade, lipid metabolism, and other pathways, respectively. A global WGRS was calculated for all 52 variants. OCT images were annotated for

SUBMITTER: Jaskoll S 

PROVIDER: S-EPMC12281124 | biostudies-literature | 2025 Nov-Dec

REPOSITORIES: biostudies-literature