Choroidal Coloboma in a Case of Tay-Sachs Disease

Coloboma as an ocular finding has been documented in various syndromes. Here we have a case of infantile Tay-Sachs disease associated with unilateral choroidal coloboma. To the best of our knowledge, such an association has not been documented in the literature. Whether such an association is a matt...

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Autores principales: Ahmed, Nasreen Raees, Tripathy, Koushik, Kumar, Vivek, Gogia, Varun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177187/
https://www.ncbi.nlm.nih.gov/pubmed/25295204
http://dx.doi.org/10.1155/2014/760746
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author Ahmed, Nasreen Raees
Tripathy, Koushik
Kumar, Vivek
Gogia, Varun
author_facet Ahmed, Nasreen Raees
Tripathy, Koushik
Kumar, Vivek
Gogia, Varun
author_sort Ahmed, Nasreen Raees
collection PubMed
description Coloboma as an ocular finding has been documented in various syndromes. Here we have a case of infantile Tay-Sachs disease associated with unilateral choroidal coloboma. To the best of our knowledge, such an association has not been documented in the literature. Whether such an association is a matter of chance or signifies the involvement of ganglioside metabolism in ocular embryogenesis remains to be elucidated.
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spelling pubmed-41771872014-10-07 Choroidal Coloboma in a Case of Tay-Sachs Disease Ahmed, Nasreen Raees Tripathy, Koushik Kumar, Vivek Gogia, Varun Case Rep Ophthalmol Med Case Report Coloboma as an ocular finding has been documented in various syndromes. Here we have a case of infantile Tay-Sachs disease associated with unilateral choroidal coloboma. To the best of our knowledge, such an association has not been documented in the literature. Whether such an association is a matter of chance or signifies the involvement of ganglioside metabolism in ocular embryogenesis remains to be elucidated. Hindawi Publishing Corporation 2014 2014-09-10 /pmc/articles/PMC4177187/ /pubmed/25295204 http://dx.doi.org/10.1155/2014/760746 Text en Copyright © 2014 Nasreen Raees Ahmed et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Ahmed, Nasreen Raees
Tripathy, Koushik
Kumar, Vivek
Gogia, Varun
Choroidal Coloboma in a Case of Tay-Sachs Disease
title Choroidal Coloboma in a Case of Tay-Sachs Disease
title_full Choroidal Coloboma in a Case of Tay-Sachs Disease
title_fullStr Choroidal Coloboma in a Case of Tay-Sachs Disease
title_full_unstemmed Choroidal Coloboma in a Case of Tay-Sachs Disease
title_short Choroidal Coloboma in a Case of Tay-Sachs Disease
title_sort choroidal coloboma in a case of tay-sachs disease
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177187/
https://www.ncbi.nlm.nih.gov/pubmed/25295204
http://dx.doi.org/10.1155/2014/760746
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AT tripathykoushik choroidalcolobomainacaseoftaysachsdisease
AT kumarvivek choroidalcolobomainacaseoftaysachsdisease
AT gogiavarun choroidalcolobomainacaseoftaysachsdisease

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