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Leber’s Hereditary Optic Neuropathy

  • Neurologic Ophthalmology and Otology
  • Published:
Current Treatment Options in Neurology Aims and scope Submit manuscript

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.

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Authors and Affiliations

  1. Thornton Professor of Vision, Departments of Ophthalmology and NeuroSurgery, Doheny Eye Institute and Keck-USC School of Medicine, Los Angeles, CA, 90033, USA

    Alfredo A. Sadun MD, PhD

  2. Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo, 7, 40123, Bologna, Italy

    Chiara La Morgia MD & Valerio Carelli MD, PhD

Authors
  1. Alfredo A. Sadun MD, PhD
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  2. Chiara La Morgia MD
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  3. Valerio Carelli MD, PhD
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Correspondence to Chiara La Morgia MD.

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Sadun, A.A., Morgia, C.L. & Carelli, V. Leber’s Hereditary Optic Neuropathy. Curr Treat Options Neurol 13, 109–117 (2011). https://doi.org/10.1007/s11940-010-0100-y

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