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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Detalles Bibliográficos
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
Descripción
Sumario: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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