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目的观察磷酸肌酸钠治疗Leber遗传性视神经病变(LHON)的有效性。设计回顾性病例系列。研究对象2014年1月至2016年1月武汉同济医院眼科确诊的LHON患者19例。根据患者是否同意住院治疗分为两组,10例住院者为治疗组,9例门诊观察未做治疗者为对照组。方法对治疗组的10例LHON患者进行磷酸肌酸钠治疗,每日2次,每次1 g,加入250 ml生理盐水中静脉滴注,共7天。观察患者治疗前后的视力、视野变化。对照组的9例患者未治疗。19例患者随访观察1年。主要指标视力、视野。结果与治疗前视力相比,治疗7天后,治疗组患者中3例患者(1号右眼,6号右眼,7号左眼)视力提高,分别提高0.3 LogMAR、0.4 LogMAR、0.7 LogMAR。随访1年后,1号右眼视力下降,6号和7号视力无变化。3例患者中14484位点突变的有2例(6号和7号),11778位点突变的有1例(1号);另外7例视力无显著改变。10例患者的视野(VFI和MD)治疗前后无显著差异(P=0.167,0.20)。未经治疗的9例患者随访观察1年,视力无变化。结论磷酸肌酸钠治疗Leber遗传性视神经病变或许对14484位点突变患者的视力提高或稳定有一定的疗效。
Objective To observe the efficacy of sodium creatine phosphate in the treatment of Leber’s hereditary optic neuropathy (LHON). Design retrospective case series. Participants 19 patients with LHON diagnosed by ophthalmology from January 2014 to January 2016 in Tongji Hospital of Wuhan. According to whether patients agree to hospitalization is divided into two groups, 10 cases of hospitalized patients for the treatment group, 9 cases of outpatient observation did not make treatment for the control group. Methods 10 cases of LHON patients in the treatment group were treated with sodium phosphorylate twice a day for 1 g each time, and were intravenously dripped in 250 ml of normal saline for 7 days. Observation of patients before and after treatment of visual acuity, visual field changes. Nine patients in the control group were untreated. 19 patients were followed up for 1 year. The main indicators of vision, vision. Results Compared with pre-treatment visual acuity, visual acuity was improved in 3 patients (1 right eye, 6 right eye, 7 left eye) in the treatment group after treatment for 7 days, respectively, by 0.3 LogMAR, 0.4 LogMAR and 0.7 LogMAR respectively. After 1 year of follow-up, the visual acuity of the right eye on the 1st decreased and the visual acuity of the 6th and 7th eyes remained unchanged. There were 2 (6 and 7) mutations in 14484 loci in 3 patients and 1 (11) mutation in 11778 loci. There was no significant change in the other 7 patients. There were no significant differences in VFI and MD before and after treatment in 10 patients (P = 0.167, 0.20). 9 cases of untreated patients were followed up for 1 year, no change in vision. Conclusion The treatment of Leber’s hereditary optic neuropathy with sodium creatine phosphate may have some effect on improving or stabilizing the vision of 14484-point mutation patients.