Purpose: To determine the ocular and systemic anomalies associated with optic disc colobomas.
Patients and methods: The records of patients with a diagnosis of isolated optic disc coloboma and chorioretinal coloboma with optic disc involvement were retrospectively reviewed.
Results: Fifteen patients were included in the study. Of the 30 eyes, the optic disc and choroid were involved in 18, an isolated disc coloboma was present in 5, a normal optic disc was present in 4, and the optic disc could not be identified because of extreme microphthalmia in 1. Of the optic discs outside the fundus colobomas, 1 had an abnormal shape and 1 had optic atrophy and hypoplasia. Eight patients had bilateral but asymmetric involvement of the optic nerve with the coloboma. Fourteen eyes of 9 patients were microphthalmic. Nine eyes of 6 patients had microcornea. One patient had a nonrhegmatogenous retinal detachment at the time of diagnosis. One eye had a retrobulbar cyst with microphthalmia. Eight (53%) of the patients had sensory strabismus. Two patients had unilateral cortical lens opacities. Associated systemic findings were present in 6 (40%) of the 15 patients.
Conclusions: Optic disc colobomas have a wide variety of presentations. Poor visual acuity was observed mostly in eyes with macular involvement and microphthalmia.