title: Mitochondrial dysfunction affecting visual pathways.
abstract: Mitochondrial dysfunction leads to cellular energetic impairment, which may affect the visual pathways, from the retina to retrochiasmal structures. The most common mitochondrial optic neuropathies include Leber's hereditary optic neuropathy and autosomal dominant optic atrophy, but the optic nerve can be affected in other syndromic conditions, such as Wolfram syndrome and Friedreich's ataxia. These disorders may result from mutations in either the mitochondrial DNA or in the nuclear genes encoding mitochondrial proteins. Despite the inconstant genotype-phenotype correlations, a clinical classification of mitochondrial disorders may be made on the basis of distinct neuro-ophthalmic presentations such as optic neuropathy, pigmentary retinopathy and retrochiasmal visual loss. Although no curative treatments are available at present, recent advances throw new light on the pathophysiology of mitochondrial disorders. Current research raises hopes for novel treatment of hereditary optic neuropathies, particularly through the use of new drugs and mitochondrial gene therapy.
authors.affiliation: Service d'ophtalmologie, CHU d'Angers, 4, rue Larrey, 49100 Angers, France. Electronic address: stleruez@chu-angers.fr.
authors.forename: S
authors.initials: S
authors.lastname: Leruez
authors.affiliation: UMR CNRS 6214, Inserm U1083, université d'Angers, rue Haute-de-Reculée, 49045 Angers, France; Département de biochimie et génétique, CHU d'Angers, 4, rue Larrey, 49100 Angers, France.
authors.forename: P
authors.initials: P
authors.lastname: Amati-Bonneau
authors.affiliation: UMR CNRS 6214, Inserm U1083, université d'Angers, rue Haute-de-Reculée, 49045 Angers, France; Service de neurologie, CHU d'Angers, 4, rue Larrey, 49100 Angers, France.
authors.forename: C
authors.initials: C
authors.lastname: Verny
authors.affiliation: UMR CNRS 6214, Inserm U1083, université d'Angers, rue Haute-de-Reculée, 49045 Angers, France; Département de biochimie et génétique, CHU d'Angers, 4, rue Larrey, 49100 Angers, France.
authors.forename: P
authors.initials: P
authors.lastname: Reynier
authors.affiliation: UMR CNRS 6214, Inserm U1083, université d'Angers, rue Haute-de-Reculée, 49045 Angers, France; Département de biochimie et génétique, CHU d'Angers, 4, rue Larrey, 49100 Angers, France.
authors.forename: V
authors.initials: V
authors.lastname: Procaccio
authors.affiliation: UMR CNRS 6214, Inserm U1083, université d'Angers, rue Haute-de-Reculée, 49045 Angers, France; Département de biochimie et génétique, CHU d'Angers, 4, rue Larrey, 49100 Angers, France.
authors.forename: D
authors.initials: D
authors.lastname: Bonneau
authors.affiliation: Service d'ophtalmologie, CHU d'Angers, 4, rue Larrey, 49100 Angers, France; UMR CNRS 6214, Inserm U1083, université d'Angers, rue Haute-de-Reculée, 49045 Angers, France; Singapore national eye centre, Singapore eye research institute and Duke-NUS, 11, Third Hospital Ave, 168751 Singapore, Singapore.
authors.forename: D
authors.initials: D
authors.lastname: Milea
mesh_terms: D000818:Animals; D006801:Humans; D028361:Mitochondrial Diseases / Q000150:complications* / Q000503:physiopathology*; D009901:Optic Nerve Diseases / Q000209:etiology* / Q000503:physiopathology; D012174:Retinitis Pigmentosa / Q000209:etiology / Q000503:physiopathology; D014794:Visual Fields; D014795:Visual Pathways / Q000503:physiopathology*
keywords: Atrophie optique dominante; Autosomal dominant optic atrophy; Hereditary optic neuropathy; Leber's hereditary optic neuropathy; Neuropathie optique héréditaire; Neuropathie optique héréditaire de Leber; Neuropathies optiques mitochondriales toxiques; Syndrome de Wolfram; Toxic mitochondrial optic neuropathies; Wolfram syndrome