Leber遗传性视神经病变女性携带者神经纤维层厚度和黄斑区视网膜厚度的改变  

Analysis of retinal nerve fiber layer thickness and macular thickness in unaffected female carrier of Leber hereditary optic neuropathy

作　　者：张译心[1] 戴艳丽[1] 巩琰[1] 黄厚斌[1] 魏世辉[1] 

机构地区：[1]解放军总医院眼科,北京100853

出　　处：《中华实验眼科杂志》2013年第6期587-591,共5页Chinese Journal Of Experimental Ophthalmology

基　　金：国家科技支撑计划项目（2012BA108B00）

摘　　要：背景研究表明Leber遗传性视神经病变（LHON）的女性基因携带者眼底各象限视网膜神经纤维层厚度（RNFLT）有不同程度的增厚，但目前对其黄斑区视网膜厚度的变化却不清楚。目的应用光学相干断层扫描仪（OCT）测量LHON女性携带者RNFLT和黄斑区视网膜厚度的变化。方法纳入2011年9月至2012年10月在解放军总医院眼科就诊的经mtDNA检测确诊的来自5个家系的5例女性LHON患者及来自16个家系的18例女性携带者，并收集性别和年龄匹配的健康对照者25人25眼。所有入选者均行一般眼科检查和OCT检查，OCT扫描程序选择“视盘容积200×200”和“黄斑容积200×200”。记录视盘360。平均RNFLT、4个象限RNFLT、黄斑容积平均厚度及早期糖尿病视网膜病变治疗研究（ETDRS）栅格9个子区的黄斑区视网膜厚度，统计分析携带者与正常对照组和患者的差别。结果与正常对照组相比，LHON女性携带者内子区颞侧、上方、鼻侧、下方黄斑区视网膜厚度均明显变薄，差异均有统计学意义（P=0．022、0．046、0．024、0．008），而黄斑容积平均厚度，中心子区和外子区颞侧、上方、鼻侧、下方黄斑区视网膜厚度以及平均、颞侧、上方、鼻侧、下方象限RNFLT的差异均无统计学意义（P=0．102、0．051、0．238、0．663、0．110、0．104、0．419、0．371、0．158、0．063、0．563）。与LHON女性携带者相比，LHON女性患者除中心子区黄斑区视网膜厚度和鼻侧象限RNFLT差异均无统计学意义（P=0．388、0．580）外，黄斑容积平均厚度，内子区颞侧、上方、鼻侧、下方和外子区颞侧、上方、鼻侧、下方黄斑区视网膜厚度以及平均、颞侧、上方、下方象限RNFLT值均明显下降，差异均有统计学意义（P=0．000、0．000、0．000、0．007、0．002、0．002、0．000、0．000、0．040、0．000、0．016、0．000、0．000）。结论LHON女性携带者Background Researches documented that retinal nerve fiber layer thickness （RNFLT） in unaffected carriers of Leber hereditary optic neuropathy （LHON） becomes thickened in different quadrants to different degrees. But the change of their macular thickness is still unclear. Objective This study was to clarify RNFLT and maeular thickness by optical coherence tomography （OCT） in unaffected female carriers of LHON families. Methods Five female LHON patients （5 eyes） from 5 LHON families, eighteen unaffected female carriers （18 eyes） from 18 LHON families and twenty-five age-matched healthy female controls （25 eyes） were included in this study. The patients and genetic carriers were diagnosed in PLA General Hospital from 2011 September to 2012 October. Regular ocular examination were performed followed by OCT measurement of retinas. The Optic Disc Cube 200x200 and Macular Cube 200x200 protocols were used during the OCT measurement. Average （360°） RNFLT, RNFLT at four quadrantic sections, cube average macular thickness and macular thickness of nine Early Treatment Diabetic Retinopathy Study （ETDRS） sub-areas were compared among the LHON genetic carriers, LHON patients and normal controls. Results Compared to the normal control group, significant reduced values were seen in temporal,superior,nasal and inferior side of sub-area macular thickness in the LHON female carriers （P=0. 022, 0. 046,0. 024,0. 008）. In addition, but no significant differences were found in cube average thickness, central sub- area macular thickness, temporal, superior, nasal and inferior side of lateral sub-area macular thickness, average RNFLT,and temporal, superior, nasal and inferior quadrant RNFLT between the LHON female carriers and normal controls （P=0.102,0.051,0.238,0.663,0.110,0.104,0.419,0.371,0.158,0.063,0.563）. Compared to the unaffected female carrier group, female patients showed significant reductions in cube average macular thickness, temporal, superior, nasal and inferior side of sub-area mac

关 键 词：LEBER遗传性视神经病变 基因携带者 视网膜神经纤维层厚度 黄斑 视网膜厚度 光学相干断层扫描 性别 

分 类 号：R774.5[医药卫生—眼科]