Article Text

This article has a correction. Please see:

other Versions

Inherited Mitochondrial Optic Neuropathies
  1. P Yu-Wai-Man
  1. Newcastle University, United Kingdom
    1. P G Griffiths
    1. Royal Victoria Infirmary, United Kingdom
      1. G Hudson
      1. Newcastle University, United Kingdom
        1. Patrick F Chinnery (p.f.chinnery{at}
        1. University of Newcastle, United Kingdom


          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.

          Statistics from

          Request Permissions

          If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

          Linked Articles

          • Miscellaneous
            BMJ Publishing Group Ltd