Browse by author
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.
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
URL: http://dx.doi.org/10.1007/s11910-012-0260-0
DOI: 10.1007/s11910-012-0260-0
