Leber's hereditary optic neuropathy

Research output: Contribution to journalArticle

70 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)109-117
Number of pages9
JournalCurrent Treatment Options in Neurology
Volume13
Issue number1
DOIs
Publication statusPublished - Feb 2011

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Leber's Hereditary Optic Atrophy
Electron Transport Complex I
Optic Atrophy
Optic Nerve Diseases
Penetrance
Retinal Ganglion Cells
Organelle Biogenesis
Blindness
Therapeutics
Mitochondrial DNA
Genetic Therapy
Visual Acuity
Oxidative Stress
Adenosine Triphosphate
Apoptosis
Mutation
Pharmaceutical Preparations

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Leber's hereditary optic neuropathy. / Sadun, Alfredo A.; Morgia, Chiara La; Carelli, Valerio.

In: Current Treatment Options in Neurology, Vol. 13, No. 1, 02.2011, p. 109-117.

Research output: Contribution to journalArticle

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