Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy.

ABSTRACT:

Purpose

To describe a series of patients with Stargardt disease (STGD1) exhibiting a phenotype usually associated with hydroxychloroquine (HCQ) retinopathy on spectral domain-optical coherence tomography (SD-OCT).

Methods

Observational case series from Columbia University Medical Center involving eight patients with genetically-confirmed STGD1. Patients selected for the study presented no history of HCQ use. Horizontal macular SD-OCT scans and accompanying 488-nm autofluorescence (AF) images, color fundus photographs, and full-field electroretinograms were analyzed.

Results

All study patients exhibited an abrupt thinning of the parafoveal region or disruption of the outer retinal layers on SD-OCT resembling the transient HCQ retinopathy phenotype. Funduscopy and AF im

SUBMITTER: Noupuu K 

PROVIDER: S-EPMC4769982 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature