Bilateral congenital macular coloboma in a boy with Down syndrome

Abstract

Purpose: To describe macular coloboma in Down syndrome.

Methods: A 12-year-old boy with Down syndrome underwent ophthalmologic examination.

Results: The patient had a circumscribed, round defect about 1 disc diameter, with bared sclera at the base and pigment clump at the macula in both fundi. His poor visual acuity was unchanged since childhood. The results of serum IgG and IgM titers for Toxoplasma gondii were negative.

Conclusions: Congenital macular coloboma associated with Down syndrome, as demonstrated in our patient, may not have occurred by chance.