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Case Rep Ophthalmol Med. 2014;2014:760746. doi: 10.1155/2014/760746. Epub 2014 Sep 10.

Choroidal coloboma in a case of tay-sachs disease.

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


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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