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

27 patients with confined atrophic lesions (≤ 3.5mm in diameter) were included. Two pathogenic alleles were confirmed by sequencing of the ABCA4 locus. Multimodal imaging included color fundus photography, short wavelength-autofluorescence (SW-AF) and near infrared-autofluorescence (NIR-AF) imaging. 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

μ _age of the study cohort was 24.1 years and 15/27 (55.6%) patients harbored genotypes c

SUBMITTER: Zee A 

PROVIDER: S-EPMC11601685 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature