Leber遗传性视神经病变早期视野特点分析

Analysis on characteristics of visual field of early Leber hereditary optic neuropathy

目的了解Leber遗传性视神经病变(LHON)患者在发病初期的视野改变特征。方法回顾性临床研究。2014年1月至2016年6月在北京中医药大学东方医院确诊为LHON,并且病程小于6个月的患者31例(60只眼),对其视野结果进行归纳分析。结果 1.11778位点突变22例(44只眼),视野中心部位+周边改变22只眼(50.0%),中心部位视野改变3只眼(18.2%),全象限视野缺损12只眼(27.3%),残余视岛2只眼(4.6%)。2.14484位点突变5例(10只眼),视野中心部位+周边改变4只眼(40.0%),中心部位视野改变6只眼(60.0%)。3.3460位点突变3例(5只眼),视野中心部位+周边改变1只眼(20.0%),中心部位视野改变2只眼(40.0%),残余视岛1只眼(20.0%),全象限视野缺损1只眼(20.0%)。4.14502位点突变1例(1只眼),为中心暗点合并上方局部缺损。5.不同基因突变位点者的视野平均光敏感度(MS)以及平均缺损(MD)值的组间差异无统计学意义(P>0.05)。结论 LHON在病变早期视野改变上形态各异,中心区域受损率100%;不同基因突变位点LHON视野损害接近。由于部分突变位点病例较少,尚需扩大样本量,做进一步研究。

OBJECTIVE To investigate the characteristics of visual field changes in patients with Leber hereditary optic neuropathy （LHON） at the onset of the disease. METHODS This is a retrospective clinical study. A total of 31 patients （60eyes） with LHON and whose duration was less than 6 months in Dongfang Hospital of Beijing University of Chinese Medicine were included, and their visual field results were analyzed and summarized from January 2014 to June 2016. RESULTS 1. There were 11778 locus mutation happened in 22 cases （44 eyes）. Among them, vision center plus surrounding changes developed in 22 eyes （50%）, the central visual field change took place in 3 eyes （18.2%）, full quadrant visual field defects occurred in 12 eyes （27.3%） and residual island came about in 2 eyes （4.6%）. 2. Totally 14484 locus mutations happened in 5 cases （10 eyes）. To be specific, center plus peripheral visual field changes occurred in 4 eyes （40%）, the central part of the visual field changes came about in 6 eyes （60%）. 3. Up to 3460 locus mutation took place in 3 cases （5 eyes）, which meant center and surrounding vision field changes happened in 1 eyes （20%）, the central visual field change occurred in 2 eyes （40%）, residual island came boat in 1 eyes （20%）, full quadrant developed in 1 eye （20%）.4. A total of 14502 locus mutation arose in 1 cases （1 eyes）, whose visual field defect occurred in central scotoma as well as upper part. 5. There was no significant difference in the mean sensitivity （MS） and mean defect （MD） values between different patients with gene mutation which meant no statistical significance （P〉0.05）. CONCLUSIONS The visual field morphology of LHON were different in the early stage, and the central region damage rate was 100%. There was no significant difference in LHON visual field at different gene locus. Because sample size of some mutation sites were very small, it was necessary to expand the sample size in further research.