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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Bibliographic Details
Main Authors: Nasreen Raees Ahmed, Koushik Tripathy, Vivek Kumar, Varun Gogia
Format: Article
Language:English
Published: Wiley 2014-01-01
Series:Case Reports in Ophthalmological Medicine
Online Access:http://dx.doi.org/10.1155/2014/760746
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Summary: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.
ISSN:2090-6722
2090-6730