[Leber's hereditary optic neuropathy].
Leber’s hereditary optic neuropathy
mitochondrial disease
optic neuritis
Journal
Rinsho shinkeigaku = Clinical neurology
ISSN: 1882-0654
Titre abrégé: Rinsho Shinkeigaku
Pays: Japan
ID NLM: 0417466
Informations de publication
Date de publication:
20 Apr 2024
20 Apr 2024
Historique:
medline:
22
4
2024
pubmed:
22
4
2024
entrez:
21
4
2024
Statut:
aheadofprint
Résumé
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.
Identifiants
pubmed: 38644210
doi: 10.5692/clinicalneurol.cn-001924
doi:
Types de publication
English Abstract
Journal Article
Langues
jpn
Sous-ensembles de citation
IM