Affiliations: Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA
Note: [] Corresponding author: Gena Heidary, MD, PhD, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Fegan 4, Boston, MA 02115, USA. Tel.: +1 617-355-6401; Fax: +1 617-730-0392; E-mail: gena.heidary@childrens.harvard.edu
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.
