Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.

ABSTRACT:

Purpose

To describe the earliest features of ABCA4-associated retinopathy.

Design

Case series.

Participants

Children with a clinical and molecular diagnosis of ABCA4-associated retinopathy without evidence of macular atrophy.

Methods

The retinal phenotype was characterized by color fundus photography, OCT, fundus autofluorescence (FAF) imaging, electroretinography, and in 2 patients, adaptive optics scanning laser ophthalmoscopy (AOSLO). Sequencing of the ABCA4 gene was performed in all patients.

Main outcome measures

Visual acuity, OCT, FAF, electroretinography, and AOSLO results.

Results

Eight children with ABCA4-associated retinopathy without macular atrophy were identified. Biallelic variants in ABCA4 were identified in all patients. Four chil

SUBMITTER: Khan KN 

PROVIDER: S-EPMC5917070 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature