目的:了解我国Leber遗传性视神经病变(Leber's hereditary optic neuropathy,LHON)线粒体DNA(mtDNA)14484位点突变患者的发病率和临床特征.方法:对来自117个家系的119例临床确诊或疑诊LHON的患者进行mtDNA检测.对3例证实为14484位点突变的家系做深入调查并收集相关病史及临床资料,抽取15例家属的血样进行mtDNA检测.结果:存在线粒体DNA突变的62例(62/119,52.1%)中,14484位点突变仅3例(4.8%).该3例3个家系56例中,28例有眼部症状,外显率50%.发病经过和临床表现类似11 778位点突变的LHON,但其中视力恢复者17例(60.7%).15例家属的血样检测再次证实为14484位点突变.结论:我国LHON患者中14484位点突变者少见,其临床表现与11778位点突变者相似,惟视力恢复率高.
AIM: To study the clinical features and the incidence rate of 14484 mutation in Chinese patients with Leber's hereditary optic neuropathy (LHON).· METHODS: A total of 119 patients from 117 pedigrees who had been clinically diagnosed or suspected LHON were tested for mtDNA mutation. A further investigation was made for 3 different pedigrees with 14484 mutation, and their pertinent clinical and historical data were collected. Among them 15 matrilineal relatives were tested for mtDNA mutation.· RESULTS: We found 62 patients with mtDNA mutation (62/119, 52.1%), only 3 of whom had 14484 mutation (4.8%). Of all the 56 patients from the 3 pedigrees, 28 patients had visual symptom, with penetrance of 50%. Their clinical features were similar to those with 11778 mutation, but 17 patients regained normal visual acuity. The result of mtDNA mutation test of the 15 matrilineal relatives proved to be 14484 mutation too.· CONCLUSION: The proportion of 14484 mutation in LHON patients in China is low. Its clinical features are similar to those with 11778 mutation, while the visual recovery rate is much higher.
International Journal of Ophthalmology