Longitudinal Analysis of a Resolving Foveomacular Vitelliform Lesion in ABCA4 Disease.

ABSTRACT:

Purpose

To describe the longitudinal progression and phenotypic association of bilateral foveomacular vitelliform lesions in the setting of ABCA4 disease.

Design

Case report and cross-sectional cohort study.

Participants

Nineteen patients with confirmed ABCA4 disease exhibiting an optical gap phenotype.

Methods

Multimodal retinal imaging across multiple visits included autofluorescence imaging, spectral-domain OCT (SD-OCT), and OCT angiography. Electro-oculogram (EOG) and full-field electroretinogram testing results were analyzed. Exome sequencing was performed for diagnostic confirmation and the verification of other variations.

Main outcome measures

Light-peak-to-dark-trough ratio (Arden ratio) on EOG; thickness and en face maps of various retinal laye

SUBMITTER: Lee W 

PROVIDER: S-EPMC9464664 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature