[Leber's hereditary optic nerve neuropathy].
The authors present a case report of 26 years old man with bilateral optic nerve neuropathy. Detection of heteroplasmic mutation of mitochondrial DNA at G3460A site confirmed the suspicion on Lebers hereditary optic nerve neuropathy (LHON). Genetic and environmental factors of the disease and various accompanying neurologic and other symptoms, which can together with the optic nerve defect participate in the development of of the LOHN clinical pattern are discussed. (Ref. 12.)
Michalik
J
J
Department of Neurology, Jessenius Faculty of Medicine, Comenius University, Martinius University Hospital, Martin, Slovakia. kurca@sco.medicalh.sk
Kurca
E
E
Drobny
M
M
Vosko
M R
MR
Malis
V
V
Misovicova
N
N
Zeman
J
J
Konradova
V
V
Stratilova
L
L
Houstek
J
J
D000328:Adult; D006801:Humans; D008297:Male; D015418:Optic Atrophies, Hereditary / Q000175:diagnosis / Q000235:genetics