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KMID : 0359719970150020331
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Journal of the Korean Neurological Association
1997 Volume.15 No. 2 p.331 ~ p.339
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Leber's Hereditary Optic Neuropathy(LHON) and Leber's Plus with mtDNA 11778 Mutation; Clinical Manifestations and a Genealogic Study
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권순억
황정민/박혜원/강동화/구자성/이광우/노재규
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Abstract
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Leber's hereditary optic neuropathy (LHON) is an important cause of bilateral optic neuropathy in youth and occasionally associated other neurological abnormalities (Leber's plus). The authors recently found out one family of LHON and another
patient of
Leber's plus with mitochondrial DNA (mtDNA) 11778 mutation. The presence of a point mutation of mtDNA was investigated by restriction length fragment polymorphism. Among 14 patients who had mtDNA 11778 mutation in the family, only two men had
bilateral
optic neuropathy. The other was a man of optic neuropathy with myelopathy. The age at onset of visual loss ranged from 14 to 25 (average 19.7). The time delay between involvement of the two eyes was 1 to 3 months. Central visual field defect was
observed in each of all affected eyes and worse in the earlier affected. The brain MRI and CSF studies revealed no abnormality. This study showed that the clinical manifestations and genealogical features of LHON in our patients are similar to
those of
previously reported cases in other countries.
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KEYWORD
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