A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778

Detection of the G to A mitochondrial DN

Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy

✍ B. A. Kormann; H. Schuster; T. A. Berninger; B. Leo-Kottler 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 342 KB

Leber's hereditary optic neuropathy (LHON) is characterized by acute or subacute bilateral (usually permanent) loss of central vision, caused by neuroretinal degeneration. The maternal inheritance is explained by the mitochondrial origin of the disease. Recently, a single mitochondrial DNA (mtDNA) m