Current Treatment Options in Neurology

, Volume 13, Issue 1, pp 109–117 | Cite as

Leber’s Hereditary Optic Neuropathy

  • Alfredo A. Sadun
  • Chiara La Morgia
  • Valerio Carelli
Neurologic Ophthalmology and Otology

Opinion statement

Leber’s hereditary optic neuropathy (LHON) is a maternally inherited blinding disease with variable penetrance. Three primary mitochondrial DNA mutations, affecting the respiratory complex I, are necessary but not sufficient to cause blindness. Reduced efficiency of ATP synthesis and increased oxidative stress are believed to sensitize the retinal ganglion cells to apoptosis. Different therapeutic strategies are considered to counteract this pathogenic mechanism. However, potential treatments for the visual loss are complicated by the fact that patients are unlikely to benefit after optic atrophy occurs. There is no proven therapy to prevent or reverse the optic neuropathy in LHON. Results from a recent trial with idebenone hold promise to limit neurodegeneration and improve final outcome, promoting recovery of visual acuity. Other therapeutic options are under scrutiny, including gene therapy, agents increasing mitochondrial biogenesis, and anti-apoptotic drugs.

References and Recommended Reading

Papers of particular interest, published recently, have been highlighted as: • Of importance••Of major importance

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Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Alfredo A. Sadun
    • 1
  • Chiara La Morgia
    • 2
  • Valerio Carelli
    • 2
  1. 1.Thornton Professor of Vision, Departments of Ophthalmology and NeuroSurgeryDoheny Eye Institute and Keck-USC School of MedicineLos AngelesUSA
  2. 2.Department of Neurological SciencesUniversity of BolognaBolognaItaly

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