title: Disorders of the optic nerve in mitochondrial cytopathies: new ideas on pathogenesis and therapeutic targets.
abstract: Mitochondrial cytopathies are a heterogeneous group of human disorders triggered by disturbed mitochondrial function. This can be due to primary mitochondrial DNA mutations or nuclear defects affecting key components of the mitochondrial machinery. Optic neuropathy is a frequent disease manifestation and the degree of visual failure can be profound, with a severe impact on the patient's quality of life. This review focuses on the major mitochondrial disorders exhibiting optic nerve involvement, either as the defining clinical feature or as an additional component of a more extensive phenotype. Over the past decade, significant progress has been achieved in our basic understanding of Leber hereditary optic neuropathy and autosomal-dominant optic atrophy--the two classical paradigms for these mitochondrial optic neuropathies. There are currently limited treatments for these blinding ocular disorders and, ultimately, the aim is to translate these major advances into tangible benefits for patients and their families.
authors.affiliation: Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle, UK.
authors.forename: Kamil S
authors.initials: KS
authors.lastname: Sitarz
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Chinnery
authors.forename: Patrick
authors.initials: P
authors.lastname: Yu-Wai-Man
mesh_terms: D002118:Calcium / Q000378:metabolism; D006801:Humans; D008928:Mitochondria / Q000235:genetics* / Q000473:pathology*; D028361:Mitochondrial Diseases / Q000150:complications / Q000453:epidemiology / Q000235:genetics / Q000628:therapy*; D009901:Optic Nerve Diseases / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology* / Q000628:therapy*; D017382:Reactive Oxygen Species / Q000378:metabolism
chemical_list: D017382:Reactive Oxygen Species; D002118:Calcium