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Unilateral BEST1-Associated Retinopathy

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)...

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Autores principales: Arora, Rashi, Khan, Kamron, Kasilian, Melissa L., Strauss, Rupert W., Holder, Graham E., Robson, Anthony G., Thompson, Dorothy A., Moore, Anthony T., Michaelides, Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5016077/
https://www.ncbi.nlm.nih.gov/pubmed/27287821
http://dx.doi.org/10.1016/j.ajo.2016.05.024
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author Arora, Rashi
Khan, Kamron
Kasilian, Melissa L.
Strauss, Rupert W.
Holder, Graham E.
Robson, Anthony G.
Thompson, Dorothy A.
Moore, Anthony T.
Michaelides, Michel
author_facet Arora, Rashi
Khan, Kamron
Kasilian, Melissa L.
Strauss, Rupert W.
Holder, Graham E.
Robson, Anthony G.
Thompson, Dorothy A.
Moore, Anthony T.
Michaelides, Michel
author_sort Arora, Rashi
collection PubMed
description 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.
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spelling pubmed-50160772016-09-15 Unilateral BEST1-Associated Retinopathy Arora, Rashi Khan, Kamron Kasilian, Melissa L. Strauss, Rupert W. Holder, Graham E. Robson, Anthony G. Thompson, Dorothy A. Moore, Anthony T. Michaelides, Michel Am J Ophthalmol Original Article 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. Elsevier Science 2016-09 /pmc/articles/PMC5016077/ /pubmed/27287821 http://dx.doi.org/10.1016/j.ajo.2016.05.024 Text en © 2016 The Authors http://creativecommons.org/licenses/by/4.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Original Article
Arora, Rashi
Khan, Kamron
Kasilian, Melissa L.
Strauss, Rupert W.
Holder, Graham E.
Robson, Anthony G.
Thompson, Dorothy A.
Moore, Anthony T.
Michaelides, Michel
Unilateral BEST1-Associated Retinopathy
title Unilateral BEST1-Associated Retinopathy
title_full Unilateral BEST1-Associated Retinopathy
title_fullStr Unilateral BEST1-Associated Retinopathy
title_full_unstemmed Unilateral BEST1-Associated Retinopathy
title_short Unilateral BEST1-Associated Retinopathy
title_sort unilateral best1-associated retinopathy
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5016077/
https://www.ncbi.nlm.nih.gov/pubmed/27287821
http://dx.doi.org/10.1016/j.ajo.2016.05.024
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