[Leber's hereditary optic neuropathy]

Rinsho Shinkeigaku. 2024 May 24;64(5):326-332. doi: 10.5692/clinicalneurol.cn-001924. Epub 2024 Apr 20.
[Article in Japanese]

Abstract

Leber's hereditary optic atrophy (LHON) is a genetic optic neuropathy that is more prevalent in young males but can occur from childhood to old age. The primary cause is mitochondrial genetic mutations, which are associated with dysfunction of mitochondrial electron transport chain complex I. It manifests as acute to subacute visual impairment, often starting unilaterally but progressing to involve both eyes within weeks to months. Visual loss is severe, with many patients having corrected visual acuity below 0.1. The differential diagnosis of optic neuritis is essential, and assessments such as pupillary light reflex, fluorescein fundus angiography, and magnetic resonance imaging can be useful for differentiation. LHON should be considered as one of the differential diagnoses for optic neuritis, and collaboration between neurologists and ophthalmologists is crucial for accurate diagnosis and appropriate treatment.

Keywords: Leber’s hereditary optic neuropathy; mitochondrial disease; optic neuritis.

Publication types

  • Review

MeSH terms

  • Adult
  • Child
  • Diagnosis, Differential
  • Electron Transport Complex I / genetics
  • Female
  • Fluorescein Angiography
  • Humans
  • Magnetic Resonance Imaging*
  • Male
  • Mitochondria / genetics
  • Mutation
  • Optic Atrophy, Hereditary, Leber* / diagnosis
  • Optic Atrophy, Hereditary, Leber* / genetics
  • Optic Neuritis / diagnosis
  • Optic Neuritis / diagnostic imaging
  • Optic Neuritis / etiology

Substances

  • Electron Transport Complex I