title: Genetic disorders and the optic nerve: a clinical survey.
abstract: Genetic disorders can cause a broad range of optic nerve pathology. Clinical symptoms and examination findings of optic nerve dysfunction may provide early clues to the presence of inherited genetic disease. For many disorders, molecular genetic testing is available for the diagnosis of affected individuals and the identification of unaffected carriers. This article surveys a broad array of systemic genetic disorders affecting the optic nerve, reviewing their ocular manifestations, systemic findings, and clinical genetics.
authors.affiliation: Rocky Mountain Lions Eye Institute, PO Box 6510 Mailstop F731, Aurora, CO 80010, USA.
authors.forename: Scott C N
authors.initials: SC
authors.lastname: Oliver
authors.forename: Jeffrey L
authors.initials: JL
authors.lastname: Bennett
mesh_terms: D030342:Genetic Diseases, Inborn / Q000150:complications*; D006801:Humans; D009896:Optic Atrophy / Q000235:genetics; D009900:Optic Nerve / Q000002:abnormalities; D009901:Optic Nerve Diseases / Q000209:etiology*