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Inherited mitochondrial optic neuropathies

Lookup NU author(s): Dr Patrick Yu Wai Man, Philip Griffiths, Professor Gavin Hudson, Professor Patrick Chinnery



Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA) are the two most common inherited optic neuropathies and they result in significant visual morbidity among young adults. Both disorders are the result of mitochondrial dysfunction: LHON from primary mitochondrial DNA (mtDNA) mutations affecting the respiratory chain complexes; and the majority of DOA families have mutations in the OPA1 gene, which codes for an inner mitochondrial membrane protein critical for mtDNA maintenance and oxidative phosphorylation. Additional genetic and environmental factors modulate the penetrance of LHON, and the same is likely to be the case for DOA which has a markedly variable clinical phenotype. The selective vulnerability of retinal ganglion cells (RGCs) is a key pathological feature and understanding the fundamental mechanisms that underlie RGC loss in these disorders is a prerequisite for the development of effective therapeutic strategies which are currently limited.

Publication metadata

Author(s): Yu Wai Man P, Griffiths PG, Hudson G, Chinnery PF

Publication type: Review

Publication status: Published

Journal: Journal of Medical Genetics

Year: 2009

Volume: 46

Issue: 3

Pages: 145-158

ISSN (print): 0022-2593

ISSN (electronic): 1468-6244


DOI: 10.1136/jmg.2007.054270