[A pedigree of Leber's hereditary optic neuropathy with mtDNA 14484 mutation].
OBJECTIVE
To analyze a pedigree of Leber's hereditary optic neuropathy, and its penetrance, anticipation, and spontaneous eyesight improvement, and its relationship with mitochondrial DNA mutation.


METHODS
Eighteen members in the family were undergone routine visual check. Five cases were taken visual evoked potential and visual field examination. DNA sequencing was performed on 6 cases to check the mtDNA 11778, 3460 and 14484 loci.


RESULTS
(1)The offsprings from the first wife in the first generation showed decreased acuity of the two eyes, which was optic atrophy identified by funduscopy. (2) The mtDNA had mutation at position 14484, but not at positions 11778 and 3460.


CONCLUSIONS
The pedigree showed a typical maternal inheritance of Leber's hereditary optic neuropathy. It was caused by mtDNA 14484 mutation.
Eye Hospital of Chinese Academy of Traditional Chinese Medicine, Beijing 100040, P.R. China.
Yi
Y
Tong
Ying
Y
Wang
Feng
F
Jiang
Bin
B
Liu
Shoukang
S
Zhang
Wei
W
Yang
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010375:Pedigree; D010641:Phenotype
D004272:DNA, Mitochondrial