A Rod-Sparing Retinopathy in Bardet-Biedl Syndrome

Bardet-Biedl syndrome is a continuum of disorders characterized by systemic and ocular findings. Retinal abnormalities typically present as diffuse photoreceptor degeneration. Here, we report a novel case that suggests a rod-sparing variant of Bardet-Biedl syndrome.

Detalles Bibliográficos
Autores principales: Chiu, Cynthia S., Mantopoulos, Dimosthenis, Lessell, Simmons, Cestari, Dean M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2015
Materias:
Published online: January, 2015
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4327332/
https://www.ncbi.nlm.nih.gov/pubmed/25759667
http://dx.doi.org/10.1159/000375136
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author Chiu, Cynthia S.
Mantopoulos, Dimosthenis
Lessell, Simmons
Cestari, Dean M.
author_facet Chiu, Cynthia S.
Mantopoulos, Dimosthenis
Lessell, Simmons
Cestari, Dean M.
author_sort Chiu, Cynthia S.
collection PubMed
description Bardet-Biedl syndrome is a continuum of disorders characterized by systemic and ocular findings. Retinal abnormalities typically present as diffuse photoreceptor degeneration. Here, we report a novel case that suggests a rod-sparing variant of Bardet-Biedl syndrome.
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spelling pubmed-43273322015-03-10 A Rod-Sparing Retinopathy in Bardet-Biedl Syndrome Chiu, Cynthia S. Mantopoulos, Dimosthenis Lessell, Simmons Cestari, Dean M. Case Rep Ophthalmol Published online: January, 2015 Bardet-Biedl syndrome is a continuum of disorders characterized by systemic and ocular findings. Retinal abnormalities typically present as diffuse photoreceptor degeneration. Here, we report a novel case that suggests a rod-sparing variant of Bardet-Biedl syndrome. S. Karger AG 2015-01-27 /pmc/articles/PMC4327332/ /pubmed/25759667 http://dx.doi.org/10.1159/000375136 Text en Copyright © 2015 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article licensed under the terms of the Creative Commons Attribution-NonCommercial 3.0 Unported license (CC BY-NC) (www.karger.com/OA-license), applicable to the online version of the article only. Users may download, print and share this work on the Internet for noncommercial purposes only, provided the original work is properly cited, and a link to the original work on http://www.karger.com and the terms of this license are included in any shared versions.
spellingShingle Published online: January, 2015
Chiu, Cynthia S.
Mantopoulos, Dimosthenis
Lessell, Simmons
Cestari, Dean M.
A Rod-Sparing Retinopathy in Bardet-Biedl Syndrome
title A Rod-Sparing Retinopathy in Bardet-Biedl Syndrome
title_full A Rod-Sparing Retinopathy in Bardet-Biedl Syndrome
title_fullStr A Rod-Sparing Retinopathy in Bardet-Biedl Syndrome
title_full_unstemmed A Rod-Sparing Retinopathy in Bardet-Biedl Syndrome
title_short A Rod-Sparing Retinopathy in Bardet-Biedl Syndrome
title_sort rod-sparing retinopathy in bardet-biedl syndrome
topic Published online: January, 2015
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4327332/
https://www.ncbi.nlm.nih.gov/pubmed/25759667
http://dx.doi.org/10.1159/000375136
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