Unilateral BEST1-Associated Retinopathy.

ABSTRACT:

Purpose

To describe a series of patients with molecularly confirmed mutation in BEST1 causing Best disease but with unilateral clinical manifestation.

Design

Retrospective observational case series.

Methods

Setting

Moorfields Eye Hospital and Great Ormond Street Hospital, London (United Kingdom).

Patients

Five patients (10 eyes) with uniocular manifestation of BEST1 mutation causing Best disease were ascertained retrospectively from the clinical and genetic databases.

Main outcome measures

Patients had full ophthalmologic examination, color fundus photography, fundus autofluorescence imaging, spectral-domain optical coherence tomography, and detailed electrophysiological assessment. Genetic testing was performed.

Results

All cases had a cl

SUBMITTER: Arora R 

PROVIDER: S-EPMC5016077 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature