Congenital optic nerve anomalies.

Abstract Objective To update the current knowledge about congenital optic disk anomalies. Methods A comprehensive literature search was performed in the major biomedical databases. Results Patients with these anomalies usually have poor vision in infancy. Refractive errors are common, and serous retinal detachment may develop in some of these anomalies. It is critically important to clinically differentiate between these congenital optic disk anomalies, as central nervous system malformations are common in some, whereas others may be associated with systemic anomalies. Conclusions Congenital optic disk anomalies are a heterogeneous group of pathologies with characteristic fundus appearance and systemic associations. We should always try to make a correct diagnosis, in order to ask for specific tests, as well as to provide an adequate follow-up.