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Unilateral BEST1-Associated Retinopathy.

Arora, R; Khan, K; Kasilian, ML; Strauss, RW; Holder, GE; Robson, AG; Thompson, DA; ... Michaelides, M; + view all (2016) Unilateral BEST1-Associated Retinopathy. American Journal of Ophthalmology , 169 pp. 24-32. 10.1016/j.ajo.2016.05.024. Green open access

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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 clinical appearance typical of and consistent with Best disease at various stages, except that the presentation was unilateral. The reduced electrooculogram light rise was bilateral and in the context of normal electroretinograms therefore indicates generalized dysfunction at the level of the retinal pigment epithelium. CONCLUSIONS: Mutation in BEST1 has variable penetrance and expressivity, and can be uniocular. The clinical and electrophysiological features described assist targeted mutational screening and alert to the potential diagnosis even when there is an atypical unilateral presentation.

Type: Article
Title: Unilateral BEST1-Associated Retinopathy.
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.ajo.2016.05.024
Publisher version: http://dx.doi.org/10.1016/j.ajo.2016.05.024
Language: English
Additional information: © 2016 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
URI: https://discovery.ucl.ac.uk/id/eprint/1501827
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