Leberʼs Hereditary Optic Neuropathy

DOI
  • Futamura Akinori
    Department of Neurology, Showa University School of Medicine
  • Oguchi Tatsunori
    Department of Neurology, Showa University School of Medicine
  • Saito Yu
    Department of Neurology, Showa University School of Medicine
  • Ono Kenjiro
    Department of Neurology, Showa University School of Medicine

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  • 神経眼科学　Leber遺伝性視神経症

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Abstract

Leber's hereditary optic neuropathy (LHON), a mitochondrial disease, is clinically characterized by bilateral subacute loss of central vision because of optic nerve involvement. LHON is usually maternally inherited; however, sporadic cases may occur. Three mitochondrial DNA (mtDNA) mutations (the most frequent being G11778A, G3460A, and T14484C) account for at least 90% of LHON cases. An associated dense central or centrocecal scotoma is present. The pupillary light reflexes are relatively preserved. Dyschromatopsia is common and usually parallels the degree of visual acuity loss.<br/>In the acute phase, typically, optic disc hyperemia, peripapillary telangiectatic vessels, vascular tortuosity, and retinal nerve fiber layer (RNFL) edema secondary to axonal stasis are observed. Magnetic resonance images of the brain and orbits are usually normal in patients with LHON. Most patients with LHON remain legally blind; however, a small proportion can experience spontaneous partial recovery, often within the first year of symptom onset. Encouraging treatments currently undergoing investigation include ubiquinone analogs, such as idebenone, as well as gene therapy and stem cells to restore ATP synthesis and provide neuroprotection to surviving retinal ganglion cells.

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