Leber Hereditary Optic Neuropathy: Bringing the Lab to the Clinic

Semin Ophthalmol. 2016;31(1-2):107-16. doi: 10.3109/08820538.2015.1115251.


Leber hereditary optic neuropathy (LHON) was the first clinically characterized mitochondrial disorder. Since its first description in 1871, much has been discovered regarding the genetics and pathophysiology of the disease. This has enabled the development of in vitro cell and animal models that can be used to try to determine not only the effects of the genetic mutation upon the clinical phenotype but to also test potential novel therapies. Treatments for LHON have ranged from vitamins and minerals to immunosuppressants and, more recently, targeted gene therapy. This article reviews the pathophysiology and clinical features of LHON with a focus on translational research.

Keywords: Hereditary optic neuropathy; Leber hereditary optic neuropathy; mitochondrial optic neuropathy; optic neuropathy.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • DNA, Mitochondrial / genetics*
  • Genetic Therapy
  • Humans
  • Male
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / physiopathology
  • Mitochondrial Diseases / therapy
  • Optic Atrophy, Hereditary, Leber / genetics*
  • Optic Atrophy, Hereditary, Leber / physiopathology
  • Optic Atrophy, Hereditary, Leber / therapy
  • Point Mutation*


  • DNA, Mitochondrial