This 7YO healthy boy has a history of esotropia in his amblyopic right eye. Vision was light perception OD and 20/40 OS.
Color photography of his right eye shows a large macular coloboma occupying nearly the entire macula. OCT scanning shows near complete atrophy and disorganization of the overlying RPE and neurosensory retina. A much smaller lesion is noted in the left temporal macula. Observation was recommended.
Learning Points:
Choroidal colobomas are most commonly caused by failure of the optic vesicle and choroidal fissure to close during embryonic development and are usually found inferonasally. They can present as solitary or multiple lesions. The differential diagnosis for congenital macular coloboma also includes post-inflammatory lesions (toxoplasmosis, cytomegalovirus, and Zika) and retinal dystrophies, including North Carolina macular dystrophy.
