@Article{Roskal-Wałek2018,
journal="Klinika Oczna / Acta Ophthalmologica Polonica",
issn="0023-2157",
volume="120",
number="4",
year="2018",
title="Leber’s hereditary optic neuropathy – a case report",
abstract="Leber’s hereditary optic neuropathy (LHON) is a genetic disease caused by mitochondrial DNA mutations. Most patients with LHON have one of the three following point mutations in genes encoding for complex I of the mitochondrial respiratory chain: m.11778G>A, m.3460G>A, and m.14484T>C. Of these mutations, the 11778G>A mutation is the most common, and it is associated with the most severe disease course. Patients with the 11778G>A mutation may exhibit selective loss of retinal ganglion cells, which leads to optic nerve atrophy and, in most cases, bilateral loss of vision. We present a case of a patient with a sudden bilateral vision loss, who had the 11778G>A mutation.",
author="Roskal-Wałek, Joanna
and Gierada, Magdalena
and Mackiewicz, Jerzy",
pages="227--231",
doi="10.5114/ko.2018.82900",
url="http://dx.doi.org/10.5114/ko.2018.82900"
}