Macular coloboma is a congenital condition characterized by failure of closure of the fetal intraocular fissure which may have a hereditary origin. Clinically, it is characterized by decreased visual acuity with macular excavated lesion characterized by missing or rudimentary retinal tissue and scleral ectasia. Macular OCT strongly supports the diagnosis and electrophysiology examination, if requested, is altered. Differential diagnosis includes pathologies causing atrophic and excavated macular lesion, in particular congenital toxoplasmosis.