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.
Highlights
Coloboma occurs due to failure of closure of the choroidal fissure during 5 to 7 weeks of embryonic development
This could suggest a role of gangliosides and their lysosomal metabolism in ocular morphogenesis
Research done on pathogenesis of coloboma has brought into light the genes and signalling pathways involved in ocular morphogenesis
Summary
Coloboma occurs due to failure of closure of the choroidal fissure during 5 to 7 weeks of embryonic development. It may occur as an isolated finding or have a syndromic association. Its association with various syndromes has given further insight into the pathogenesis. The association of coloboma with lysosomal storage disorders such as Tay-Sachs disease has never been documented before. 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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