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Disorders of the Optic Nerve in Mitochondrial Cytopathies: New Ideas on Pathogenesis and Therapeutic Targets

Lookup NU author(s): Kamil Sitarz, Professor Patrick Chinnery, Dr Patrick Yu Wai Man



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.

Publication metadata

Author(s): Sitarz KS, Chinnery PF, Yu-Wai-Man P

Publication type: Review

Publication status: Published

Journal: Current Neurology and Neuroscience Reports

Year: 2012

Volume: 12

Issue: 3

Pages: 308-317

Print publication date: 06/03/2012

ISSN (print): 1528-4042

ISSN (electronic): 1534-6293

Publisher: SPRINGER


DOI: 10.1007/s11910-012-0260-0