title: [Hereditary optic neuropathies: from clinical signs to diagnosis].
abstract: Inherited optic atrophy must be considered when working up any optic nerve involvement and any systemic disease with signs of optic atrophy, even with a negative family history. There are two classical forms: dominant optic atrophy, characterized by insidious, bilateral, slowly progressive visual loss and temporal disc pallor, and Leber's optic atrophy, characterized by acute loss of central vision followed by the same event in the fellow eye within a few weeks to months, with disc hyperemia in the acute phase. Family history is critical for diagnosis. In the absence of family history, the clinician must rule out an identifiable acquired cause, i.e. toxic, inflammatory, perinatal injury, traumatic or tumoral, with orbital and brain imaging (MRI). Recessive optic atrophies are more rare and more severe and occur as part of multisystemic disorders, particularly Wolfram syndrome (diabetes mellitus, diabetes insipidus, and hearing loss). Effective treatments are limited; alcohol and smoking should be avoided. A cyclosporine trial (taken immediately upon visual loss in the first eye) is in progress in Leber's optic atrophy to prevent involvement of the fellow eye.
authors.affiliation: Centre national de référence maladies rares, affections sensorielles génétiques, service d'ophtalmologie, hôpital Gui-de-Chauliac, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France. Electronic address: isabelannemeunier@yahoo.fr.
authors.forename: I
authors.initials: I
authors.lastname: Meunier
authors.forename: G
authors.initials: G
authors.lastname: Lenaers
authors.forename: C
authors.initials: C
authors.lastname: Hamel
authors.forename: S
authors.initials: S
authors.lastname: Defoort-Dhellemmes
mesh_terms: D003937:Diagnosis, Differential; D003941:Diagnostic Techniques, Ophthalmological; D006801:Humans; D015418:Optic Atrophies, Hereditary / Q000175:diagnosis* / Q000235:genetics; D029242:Optic Atrophy, Hereditary, Leber / Q000175:diagnosis / Q000628:therapy; D010375:Pedigree; D010808:Physical Examination
keywords: ADN mitochondrial; Atrophie optique dominante; Dominant optic atrophy; Leber's optic atrophy; Mitochondrial DNA; Neuropathie optique de Leber; OPA1; Optic nerve head telangiectasias; Syndrome de Wolfram; Télangiectasies papillaires; Wolfram syndrome