Congenital optic nerve anomalies and hereditary optic neuropathies

Abstract

Congenital and hereditary optic nerve anomalies represent a significant cause of visual dysfunction. While some optic nerve abnormalities affect the visual system alone, others may be associated with neurologic and systemic findings. Correct identification of the optic nerve disease therefore is crucial both for developing a treatment plan with respect to visual rehabilitation, but also for initiating the appropriate multidisciplinary evaluation. The purpose of this review is to highlight common examples of congenital and inherited optic nerve abnormalities in an effort to familiarize the clinician with salient clinical features of these diseases and to review important systemic testing when relevant.

Keywords

Optic nerve - coloboma - optic nerve hypoplasia - hereditary optic neuropathy - Aicardi syndrome - optic nerve drusen - optic nerve pit - morning glory disc