Choroidal Coloboma in a Case of Tay-Sachs Disease. (10th September 2014)

• Record Type: Journal Article
• Authors: Ahmed, Nasreen Raees; Tripathy, Koushik; Kumar, Vivek; Gogia, Varun
• Other Names: Ferreras Antonio Academic Editor.
• Is Part Of: Case reports in ophthalmological medicine. Volume 2014(2014)
• Publication Date: 2014-09-10
• Subjects: Ophthalmology -- Periodicals; Eye -- Diseases -- Periodicals; Ophthalmology; Eye Diseases; Eye -- Diseases; Ophthalmology; Electronic journals; Periodicals; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 617.7
• DOI: 10.1155/2014/760746
• Languages: English
• ISSNs: 2090-6722

Abstract

Abstract : 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.