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
