Pathologic Genetic Mutations May Correlate with Poor Visual Outcome in Patients with Hydroxychloroquine Retinopathy.

ABSTRACT:

Introduction

To evaluate the progression rate and identify potential genetic risk factors for poor visual outcome in chloroquine/hydroxychloroquine (CQ/HCQ) retinopathy.

Methods

Ocular variables, including best-corrected visual acuity (BCVA), hypoautofluorescent area in fundus autofluorescence (FAF) and others were analyzed in patients with a diagnosis of CQ/HCQ retinopathy based on comprehensive ocular and demographic examinations. Whole exome sequencing (WES) was used to investigate the candidate genes associated with inherited retinal diseases. Multivariate analysis was used to analyze the correlation between pathogenic genetic mutation and visual outcome, with poor vision defined as BCVA < 6/12.

Results

Forty-one patients with an average age of 61.1 ± 13.6 years,

SUBMITTER: Chiu HI 

PROVIDER: S-EPMC12167180 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature