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Case Reports in Ophthalmological Medicine
Volume 2014, Article ID 760746, 3 pages
Case Report

Choroidal Coloboma in a Case of Tay-Sachs Disease

Department of Ophthalmology, Dr. R. P. Centre, All India Institute of Medical Sciences, New Delhi 110029, India

Received 23 June 2014; Revised 19 August 2014; Accepted 24 August 2014; Published 10 September 2014

Academic Editor: Antonio Ferreras

Copyright © 2014 Nasreen Raees Ahmed et al. 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.


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.