A Multitrait Open-Angle Glaucoma Polygenic Risk Score Stratifies Risk of Glaucoma Diagnosis and Severity in Eyes with Pseudoexfoliation

A Kolovos; A Qassim; MM Hassall; HN Marshall; J Schmidt; TT Nguyen; W He; S Mullany; GL Hollitt; EC Berry; V Tang; T Zhou; S Lake; R Mills; J Landers; RJ Casson; A Galanopoulos; SL Graham; A Schulz; PR Healey; P Mitchell; I Goldberg; J Grigg; J Ruddle; DA Mackey; KP Burdon; AW Hewitt; M Seviiri; P Gharahkhani; E Souzeau; OM Siggs; S MacGregor; JE Craig

Journal article

A Multitrait Open-Angle Glaucoma Polygenic Risk Score Stratifies Risk of Glaucoma Diagnosis and Severity in Eyes with Pseudoexfoliation

A Kolovos, A Qassim, MM Hassall, HN Marshall, J Schmidt, TT Nguyen, W He, S Mullany, GL Hollitt, EC Berry, V Tang, T Zhou, S Lake, R Mills, J Landers, RJ Casson, A Galanopoulos, SL Graham, A Schulz, PR Healey Show all

Ophthalmology | Published : 2025

DOI: 10.1016/j.ophtha.2025.02.013

Abstract

Purpose: Pseudoexfoliation syndrome (PEX) is a known risk factor for glaucoma, but its individual clinical course ranges from no glaucoma to total blindness. This study investigated whether polygenic risk scores (PRSs) built from variants collectively associated with open-angle glaucoma, intraocular pressure (IOP), and vertical cup-to-disc ratio (VCDR) can stratify individuals with pseudoexfoliation for the risk of glaucoma development. Design: Retrospective multicohort study of 2 glaucoma registries and 1 population-based cohort. Participants: For the primary analysis, participants (n = 828) were classified as having PEX with glaucoma, PEX with suspected glaucoma, or PEX with no glaucoma. F..

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