Rinsho Shinkeigaku (Clinical Neurology)


Leber's hereditary optic neuropathy

Yasuyuki Takai1j, Akiko Yamagami1j and Hitoshi Ishikawa2j

1) Department of Ophthalmology, Inouye Eye Hospital
2) Department of Orthoptics and Visual Science, School of Allied Health Sciences, Kitazato University

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.
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(CLINICA NEUROL, 64: 326|332, 2024)
key words: Leber's hereditary optic neuropathy, optic neuritis, mitochondrial disease

(Received: 15-Sep-23)