Characterization of the Subclinical Perilesional Zone in the Macula of Early-Stage ABCA4 Disease.

ABSTRACT:

Purpose

To characterize photoreceptor layer thinning in clinically unremarkable regions adjacent to the atrophic lesion in early-stage ABCA4 disease eyes.

Methods

Twenty-seven patients with confined atrophic lesions (≤3.5 mm in diameter) were included. Two pathogenic alleles were confirmed by sequencing of the ABCA4 locus. Multimodal imaging included fundus photography, short-wavelength autofluorescence, and near-infrared autofluorescence imaging (NIR-AF). Total receptor+ (TREC+) thickness was segmented in spectral-domain optical coherence tomography (SD-OCT) scans in patient eyes (n = 27) along with age-matched healthy control eyes (n = 20).

Results

Mean age of the study cohort was 24.1 years, and 15 of 27 (55.6%) patients harbored genotypes consisting of the p.(Gly1

SUBMITTER: Zee A 

PROVIDER: S-EPMC12743489 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature