A Case of Leberʼs Hereditary Optic Neuropathy with m.4171C＞A Mutation

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  • m.4171C＞A変異を呈したレーベル遺伝性視神経症の一例

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Abstract

<p>　Leber's hereditary optic neuropathy（LHON）is a mitochondrial disease caused by genetic mutations. About 90％ of cases have the following mutations: m.11778G＞A, 14484T＞C, or 3460G＞A. Rare mutation types account for 10％ of cases. We report a case of typical LHON in a 20-year-old man with the rare mutation m.4171C＞A. It is the first case report of this mutation in Japan. The mitochondrial gene in this case was classified as Haplogroup N9b, unlike previous reports. m.4171C＞A mutation has shown good natural recovery within one year, but in this case, there has been no recovery yet. With the same mitochondrial gene mutation, the prognosis may differ because of various factors, such as haplogroup differences, systemic diseases, and environmental factors. LHON due to rare mitochondrial mutation should be included in the differential diagnosis of unknown binocular optic atrophy.</p>

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