[Leber's hereditary optic neuropathy (LHON) with mutation at G3460A and MS-like phenotype].
A sporadic case of a 31 year-old woman with genetically confirmed diagnosis of LHON was presented. Both her optic nerves were affected, with a 5-year interval between the onset in one eye and the loss of vision in the second one. Besides optic atrophy clinical and laboratory signs of multiple sclerosis were found. A review of the literature suggests that the G3460A mutation present in this case rarely coexists with a MS-like clinical phenotype.
Jamrozik
Zygmunt
Z
Katedra i Klinika Neurologii Akademii Medycznej w Warszawie Samodzielny Publiczny Centralny Szpital Kliniczny ul. Banacha 1a, 02-097 Warszawa. zjamrozik@amwaw.edu.pl
Tutaj
Andrzej
A
Piechowski-Jóźwiak
Bartłomiej
B
Mroczek-Tońska
Katarzyna
K
Bartnik
Ewa
E
Kwieciński
Hubert
H
D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D015870:Gene Expression / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D009103:Multiple Sclerosis / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*
D004272:DNA, Mitochondrial