Leber遗传性视神经病变患者及G11778A突变携带者视网膜亚层厚度分析  

Analysis of retinal sublayer thickness in Leber hereditary optic neuropathy and G11778A mutation carriers

作　　者：程宇芳 缪青梅 元佳佳 陈长征[1] Cheng Yufang;Miao Qingmei;Yuan Jiajia;Chen Changzheng(Department of Ophthalmology,Renmin Hospital of Wuhan University,Wuhan 430060,China)

机构地区：[1]武汉大学人民医院眼科中心,武汉430060

出　　处：《中华眼底病杂志》2023年第7期554-559,共6页Chinese Journal of Ocular Fundus Diseases

基　　金：国家自然科学基金青年项目(82101115);武汉大学自主创新基金青年项目(2042021kf0094)。

摘　　要：目的观察Leber遗传性视神经病变(LHON)患者及G11778A突变携带者视盘周围神经纤维层(pRNFL)以及光感受器(PR)亚层厚度。方法横断面研究。2020年9月至2021年10月于武汉大学人民医院眼科检查确诊的LHON患者68例136只眼(患者组)及其LHON患者家系中G11778A突变携带者40名80只眼(携带者组)纳入研究。患者组均经基因检测发现G11778A突变。选取与患者组年龄、性别匹配的健康志愿者40名80只眼作为正常对照组。受检眼均行光相干断层扫描(OCT)检查。设备内置软件测量平均、上方、鼻侧、颞侧、下方pRNFL厚度;Image J软件测量黄斑OCT图像中的黄斑区视网膜总厚度(MT)以及外丛状层(OPL)、外核层(ONL)、外界膜至视网膜色素上皮(ELM-RPE)厚度。采用线性混合模型比较患者组、携带者组、正常对照组pRNFL厚度,黄斑中心凹及鼻侧、颞侧旁中心凹MT以及OPL、ONL、ELM-RPE厚度;同时分析pRNFL及黄斑视网膜亚层厚度与患者病程的相关性。结果患者组上方、下方、颞侧和平均pRNFL厚度均较携带者组、正常对照组降低,差异均有统计学意义(P<0.01);患者组鼻侧pRNFL厚度也较携带者组降低,差异有统计学意义(P<0.01)。中心凹:与正常对照组比较,患者组MT、ONT厚度降低,差异有统计学意义(P<0.05);携带者组ONL厚度降低,差异有统计学意义(P=0.01)。旁中心凹:与正常对照组比较,患者组MT、颞侧ONL厚度降低,颞侧OPL厚度增厚,差异均有统计学意义(P<0.05);携带者组MT及颞侧、鼻侧ONL厚度均降低,鼻侧OPL厚度增厚,差异均有统计学意义(P<0.05)。与携带者组比较,患者组MT降低,鼻侧ONL、鼻侧ELM-RPE厚度增厚,差异均有统计学意义(P<0.05)。相关性分析结果显示,患者组上方、鼻侧、颞侧及平均pRNFL变薄(r=-0.22、-0.21、-0.25、-0.22),中心凹颞侧ELM-RPE增厚(r=0.19)均与病程相关(P<0.05)。结论G11778A突变的LHON患者pRNFL变薄,且与病程相关;患者、携�Objective To analyze the thickness of peripapillary retinal nerve fiber layer(pRNFL)and photoreceptor(PR)sublayer in Leber hereditary optic neuropathy(LHON)and G11778A mutation carriers.Methods A cross sectional study.From September 2020 to October 2021,68 LHON patients(136 eyes)(patient group)and 40 G11778A mutation carriers(80 eyes)of LHON patients'families(carrier group)were included in the study.All patients were found to have G11778A mutation by Genetic testing.Forty healthy volunteers with 80 eyes matched to the age and gender of the patient group were recruited as a normal control group.All eyes were examined by optical coherence tomography(OCT).The pRNFL thickness was automatically measured by the built-in software of the OCT device.The total retinal thickness(MT)and the thickness of the outer bundle layer(OPL),outer nuclear layer(ONL),external limiting membrane to retinal pigment epithelium(ELM-RPE)in macular OCT images were measured by Image J software.Linear mixed model was used to analyze and compare the thickness of pRNFL,macular fovea and four layers above the nasal and temporal paracentral retina in patients,carriers and normal controls.The correlation between pRNFL and macular retinal sublayer thickness and the course of disease was also analyzed.Results The thickness of the upper and lower pRNFL,temporal pRNFL and average pRNFL of the patients were smaller than those of the carriers and the normal control group(P<0.01),and the nasal pRNFL thickness of the patients was smaller than that of the carriers(P<0.01).Fovea:compared with the normal control group,the thickness of MT and ONT in the patient group was decreased,ONL thickness decreased in carrier group,with the significant different(P<0.05).Parafovea:compared with normal control group,the thickness of MT and temporal ONL decreased and temporal OPL increased in the patients group,with the significant different(P<0.05).In the carrier group,the thickness of MT and temporal,nasal ONL decreased,and the thickness of nasal OPL increased,with the sign

关 键 词：LEBER遗传性视神经病变 线粒体疾病 体层摄影术 光学相干 视盘周围神经纤维层厚度 光感受器亚层厚度 

分 类 号：R774.6[医药卫生—眼科]