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目的了解我国Leber遗传性视神经病变(Leber’sHereditaryOpticNeuropathy,LHON)线粒体DNA(mtDNA)11696位点突变病人的临床特征。方法对来自51个家系的54例临床确诊或疑诊LHON的病人进行mtDNA检测,进行全基因排序分析。结果对3例证实为11696位点突变的家系做深入调查并收集相关病史及临床资料。3位先证者均是家系中唯一发病者,发病经过和临床表现类似11778位点突变的LHON。在随防中,有一例先证者视力恢复至1.0,其余2例视力无变化。结论LHON病人中11696位点突变者少见,其临床表现与11778位点突变者相似,预后差异大。
Objective To investigate the clinical characteristics of Leber’s Hereditary Optic Neuropathy (LHON) mutation in 11696 locus of mitochondrial DNA (mtDNA). Methods Fifty-four patients with clinically confirmed or suspected LHON from 51 pedigrees were detected by mtDNA and sequenced. Results A total of 3 families confirmed as 11696 loci were investigated in depth and related history and clinical data were collected. 3 probands are the only family members of the incidence, incidence and clinical manifestations similar to the 11778 point mutation LHON. In the prevention, there is a case of proband visual acuity recovered to 1.0, the remaining two cases no change in vision. Conclusions 11,696 mutations in LHON patients are rare, and their clinical manifestations are similar to those of 11778 mutation sites. The prognosis is quite different.