J Korean Neurol Assoc.  1997 Apr;15(2):331-339.

Leber's hereditary optic neuropathy(LHON) and leber's plus with mtDNA 11778 mutation: Clinical manifestations and a genealogic study

• Kwon SU
• Hwang JM
• Park HW
• Kang DW
• Koo JS
• Lee KW
• Roh JK

Abstract

Leber's hereditary optic neuropathy (LHON) is an important cause of bilateral optic neuropathy in youth and occasionally associated with 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 I 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.

Keyword

Leber's hereditary optic neuropathy; LHON; optic neuropathy; Leber's plus; 11778 mutation

MeSH Terms

Adolescent
Brain
DNA, Mitochondrial*
Humans
Magnetic Resonance Imaging
Male
Optic Atrophy, Hereditary, Leber
Optic Nerve Diseases
Point Mutation
Spinal Cord Diseases
Visual Fields
DNA, Mitochondrial