Abstract
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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
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Review
MeSH terms
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Adult
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Blindness / genetics
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Brain / pathology
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DNA, Mitochondrial / genetics*
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Humans
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Magnetic Resonance Imaging
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Male
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Multiple Sclerosis / diagnosis
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Multiple Sclerosis / genetics*
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Optic Atrophies, Hereditary / diagnosis
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Optic Atrophies, Hereditary / genetics*
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Optic Nerve / pathology
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Point Mutation*
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Spinal Cord / pathology
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Visual Acuity