RT Journal Article SR Electronic T1 Inherited mitochondrial optic neuropathies JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 145 OP 158 DO 10.1136/jmg.2007.054270 VO 46 IS 3 A1 P Yu-Wai-Man A1 P G Griffiths A1 G Hudson A1 P F Chinnery YR 2009 UL http://jmg.bmj.com/content/46/3/145.abstract AB 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.