title: Choroidal coloboma in a case of tay-sachs disease.
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.
authors.affiliation: Department of Ophthalmology, Dr. R. P. Centre, All India Institute of Medical Sciences, New Delhi 110029, India.
authors.forename: Nasreen Raees
authors.initials: NR
authors.lastname: Ahmed
authors.affiliation: Department of Ophthalmology, Dr. R. P. Centre, All India Institute of Medical Sciences, New Delhi 110029, India.
authors.forename: Koushik
authors.identifier: 0000-0002-9756-128X
authors.initials: K
authors.lastname: Tripathy
authors.affiliation: Department of Ophthalmology, Dr. R. P. Centre, All India Institute of Medical Sciences, New Delhi 110029, India.
authors.forename: Vivek
authors.initials: V
authors.lastname: Kumar
authors.affiliation: Department of Ophthalmology, Dr. R. P. Centre, All India Institute of Medical Sciences, New Delhi 110029, India.
authors.forename: Varun
authors.initials: V
authors.lastname: Gogia