[Clinical features and the mutation of Leber's hereditary optic neuropathy in Chinese patients].
OBJECTIVE
To analyze the mutation of Leber's hereditary optic neuropathy (LHON) and the clinical features in Chinese patients.


METHODS
The primary mtDNA mutations (3460A, 11778A and 14484C) of 156 patients (110 probands and 46 maternal relatives with LHON) were detected by mutation-specific priming polymerase chain reaction, heteroduplex-single strand conformation polymorphism polymerase chain reaction, restriction fragment length polymorphisms and measurement of DNA sequence. The clinical features were analyzed by retrospective study.


RESULTS
The 11778A mutation was found in 100 probands (90.9%), the 3460A mutation was found in 2 (1.8%), and the 14484C was found in 8 (7.3%) of the 110 probands. The visual acuity at onset of the disease was 0.01 or worse in 44 (17.6%) of 250 eyes with the 11778A mutation, but in none of 79 eyes with the 14484C mutation. The visual acuity was 0.1 or better in 76 (29.6%) of 250 eyes with the 11778A mutation, but in 49 (87.3%) of 56 eyes with the 14484C mutation. And 6.8% of 250 eyes with the 11778A mutation recovered a mean final visual acuity of 0.03, whereas 50% of 56 eyes with the 14484C mutation recovered a mean final visual acuity of 0.8.


CONCLUSIONS
In Chinese LHON patients the 11778A, 14484C primary mutations are common. The clinical features are associated with the site of primary mutation. The visual acuity at onset of the disease and the visual recovery of the eyes with 14484C mutation were better than the eyes with the 11778A mutation.
Wang
Yan
Y
Department of Ocular Genetics and Molecular Biology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, 510060, PR China.
Guo
Xiang-ming
XM
Jia
Xiao-yun
XY
Li
Shi-qiang
SQ
Xiao
Xue-shan
XS
Guo
Li
L
Zhang
Qing-jiong
QJ
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002648:Child; D002681:China; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000208:ethnology / Q000235:genetics* / Q000473:pathology*; D016133:Polymerase Chain Reaction; D055815:Young Adult
D004272:DNA, Mitochondrial