目的报道一个携带线粒体G3460A点突变的Leber’s遗传性视神经病变(Leber’she-reditaryopticneuropathy,LHON)家系及其临床预后。方法对一LHON家系10母系成员进行临床检查,应用聚合酶链反应扩增目的基因、琼脂糖凝胶电泳、切胶纯化并双向测序,对三个原发突变位点G3460A、G11778A、T14484C进行检测。结果所有母系成员均携带G3460A点突变,家系内对照未携带该突变;所有的家系成员未携带其他两个原发突变。结论携带G3460A点突变的患者有较好的视力预后。 Objective To report a family history of Leber’s hereditary optic neuropathy (LHON) carrying the mitochondrial G3460A point mutation and its clinical prognosis. Methods A maternal LHON 10 maternal family member was subjected to clinical examination. Polymerase chain reaction (PCR) amplification of target gene, agarose gel electrophoresis, gel excision and bi-directional sequencing were performed to detect the three primary mutation sites G3460A, G11778A and T14484C . Results All maternal members carried the point mutation G3460A, while the in-house controls did not carry this mutation; all the members of the pedigree did not carry the other two primary mutations. Conclusions Patients with point mutations in G3460A have a better visual outcome.