A multiple sclerosis-like illness in a man harboring the mtDNA 14484 mutation.
In most cases of Leber's hereditary optic neuropathy (LHON) the only clinical manifestation is visual loss. A multiple sclerosis-like illness has been infrequently reported in association with LHON. Most patients are women harboring the mtDNA 11778 mutation. We present a young man with clinical and paraclinical evidence of a demyelinating process with profound bilateral visual loss who harbored the mtDNA 14484 mutation associated with LHON.
Bhatti
M T
MT
Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia, USA.
Newman
N J
NJ
D000328:Adult; D001766:Blindness / Q000235:genetics; D001921:Brain / Q000473:pathology; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009103:Multiple Sclerosis / Q000175:diagnosis / Q000235:genetics*; D015418:Optic Atrophies, Hereditary / Q000175:diagnosis / Q000235:genetics*; D009900:Optic Nerve / Q000473:pathology; D017354:Point Mutation; D013116:Spinal Cord / Q000473:pathology; D014792:Visual Acuity
D004272:DNA, Mitochondrial