Leber Hereditary Optic Neuropathy Case Report: Clinical Presentation and Treatment with Idebenone Reinforce the Evidence for m.3866T>C as a Causative Variant

Introduction: Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder that typically presents with painless, central visual loss, hyperaemia of the optic nerve head, and peripapillary telangiectasias. Most LHON cases are due to one of three variants, but several less common variants als...

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Hlavní autoři:	Øystein K. Jørstad, Stine Skaar, Harald Strand, Oddveig Røsby, Ruth Therese Brokstad, Pål A. Rønning
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Karger Publishers 2024-06-01
Edice:	Case Reports in Ophthalmology
Témata:	leber hereditary optic neuropathy m.3866t>c idebenone case report
On-line přístup:	https://beta.karger.com/Article/FullText/539445
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