Sometimes a coloboma is part of a genetic syndrome. For instance, cat eye syndrome, a rare disorder named after the distinctive shape of an iris coloboma, is caused by a specific genetic mutation and occurs along with other physical abnormalities.

However, not all babies born with a coloboma have a family history of this condition, suggesting that the disorder can appear by chance.

Image reproduced, with permission, from Holds JB, Basic and Clinical Science Course, Section 7, American Academy of Ophthalmology, 2011-2012.

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