Intraoperative OCT of bilateral macular coloboma in a child with Down syndrome

A 3-year-old girl with Down syndrome presented with a macular lesion in both eyes. With intraoperative optical coherence tomography confirmation, the patient was diagnosed as having bilateral macular coloboma. These findings were previously reported in two patients with Down syndrome. The documentation of similar findings in three separate patients suggests that macular coloboma may be a rare ophthalmic pathology associated with Down syndrome. Moreover, optical coherence tomography imaging may be a useful adjunct in diagnosing macular coloboma in the pediatric population.