Choroidal Coloboma in a Case of Tay-Sachs Disease

الملخص EN

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.