en POLSKI
eISSN: 2719-3209
ISSN: 0023-2157
Klinika Oczna / Acta Ophthalmologica Polonica
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4/2018
vol. 120
 
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abstract:
Case report

Leber’s hereditary optic neuropathy – a case report

Joanna Roskal-Wałek
1
,
Magdalena Gierada
1
,
Jerzy Mackiewicz
2

1.
Klinika Okulistyki Wojewódzkiego Szpitala Zespolonego w Kielcach
2.
Klinika Chirurgii Siatkówki i Ciała Szklistego Uniwersytetu Medycznego w Lublinie
Online publish date: 2019/02/27
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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.
keywords:

Leber’s hereditary optic neuropathy, mitochondrial DNA mutations, optic nerve atrophy

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