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）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 study the clinical features of 11696 mutation with Leber＇s hereditary optic neuropathy. Methods We performed sequence analysis of the complete mitochondrial genomes in 54 patients from 51 pedigrees who were clinically diagnosed or suspected LHON. Results A further investigation and study were made for 3 different pedigrees with 11696 mutation. Pertinent clinical and historical date were collected.All of 3 proband were the only one who had visually symptom in his family.The clinical features was similar to those with 11778 mutation. One patients recovered normal visual acuity,while the other two got no change in visual acuity. Conclusion The clinical feature is similar to those with 11778 mutation,but the visual recovery is much different.
Chinese Journal of Practical Ophthalmology