Abstract：
To analyze the functional and structural changes in retinal ganglion cells (RGCs) and their axons that occur during Leber\'s hereditary optic neuropathy (LHON) using photopic negative response (PhNR) and spectral domain optical coherence tomography (SD-OCT).
Individuals diagnosed with LHON and their family members were invited to participate in this cross-sectional study. PhNR and OCT were used. The PhNR amplitude and peripapillary retinal nerve fiber layer (pRNFL) thicknesses were compared among the three groups. In addition, affected individuals were divided into subacute, dynamic and chronic phases based on disease duration in order to evaluate the decay in RGCs function and structure.
73 affected and 30 carriers with a m.11778G > A mutation were included. PhNR amplitude and the thickness of pRNFL significantly decreased in affected individuals and carriers compared to that of the controls (P＜0.001). However, there was no difference between the carriers and the controls (P＞0.05). There was no difference in the PhNR amplitude of different phases (P = 0.464). In the subacute phase, only temporal pRNFL thickness decreased significantly (P＜0.001). PRNFL thickness decreased significantly in dynamic phase (P＜0.001). Temporal pRNFL thickness continued to decrease in the chronic phase (P = 0.042).
In the subacute phase, the function of RGCs was severely impaired. Thickness of pRNFL decreased significantly in four quadrants during disease progression. In the chronic phase, pRNFL thickness decreased slightly. Carriers have shown RGCs dysfunction before pathological changes occur, suggesting subclinical abnormalities.
Individuals diagnosed with LHON and their family members were invited to participate in this cross-sectional study. PhNR and OCT were used. The PhNR amplitude and peripapillary retinal nerve fiber layer (pRNFL) thicknesses were compared among the three groups. In addition, affected individuals were divided into subacute, dynamic and chronic phases based on disease duration in order to evaluate the decay in RGCs function and structure.
73 affected and 30 carriers with a m.11778G > A mutation were included. PhNR amplitude and the thickness of pRNFL significantly decreased in affected individuals and carriers compared to that of the controls (P＜0.001). However, there was no difference between the carriers and the controls (P＞0.05). There was no difference in the PhNR amplitude of different phases (P = 0.464). In the subacute phase, only temporal pRNFL thickness decreased significantly (P＜0.001). PRNFL thickness decreased significantly in dynamic phase (P＜0.001). Temporal pRNFL thickness continued to decrease in the chronic phase (P = 0.042).
In the subacute phase, the function of RGCs was severely impaired. Thickness of pRNFL decreased significantly in four quadrants during disease progression. In the chronic phase, pRNFL thickness decreased slightly. Carriers have shown RGCs dysfunction before pathological changes occur, suggesting subclinical abnormalities.
摘要：
目的：使用明视负反应（PhNR）和谱域光学相干断层扫描（SD-OCT）分析Leber遗传性视神经病变（LHON）期间视网膜神经节细胞（RGCs）及其轴突的功能和结构变化。
方法：被诊断为LHON的个体及其家庭成员被邀请参加这项横断面研究。使用PhNR和OCT。比较3组患者的PhNR波幅和乳头周围视网膜神经纤维层(pRNFL)厚度。此外,受影响的个体分为亚急性，基于疾病持续时间的动态和慢性期，以评估RGC功能和结构的衰减。
结果：包括73个受影响的携带者和30个具有m.11778G>A突变的携带者。与对照组相比，受累个体和携带者的PhNR振幅和pRNFL厚度显着降低（P＜0.001）。然而,携带者与对照组比较差异无统计学意义(P＞0.05)。不同相位的PhNR振幅无差异(P=0.464)。在亚急性期,仅颞叶pRNFL厚度明显下降(P＜0.001)。PRNFL厚度在动态阶段明显下降(P＜0.001)。在慢性期，pRNFL的时间厚度持续下降（P=0.042）。
结论：在亚急性期，RGC功能严重受损.在疾病进展过程中，四个象限的pRNFL厚度显着降低。在慢性期,pRNFL厚度略有下降。在病理变化发生之前，载体已经显示出RGC功能障碍，提示亚临床异常.
方法：被诊断为LHON的个体及其家庭成员被邀请参加这项横断面研究。使用PhNR和OCT。比较3组患者的PhNR波幅和乳头周围视网膜神经纤维层(pRNFL)厚度。此外,受影响的个体分为亚急性，基于疾病持续时间的动态和慢性期，以评估RGC功能和结构的衰减。
结果：包括73个受影响的携带者和30个具有m.11778G>A突变的携带者。与对照组相比，受累个体和携带者的PhNR振幅和pRNFL厚度显着降低（P＜0.001）。然而,携带者与对照组比较差异无统计学意义(P＞0.05)。不同相位的PhNR振幅无差异(P=0.464)。在亚急性期,仅颞叶pRNFL厚度明显下降(P＜0.001)。PRNFL厚度在动态阶段明显下降(P＜0.001)。在慢性期，pRNFL的时间厚度持续下降（P=0.042）。
结论：在亚急性期，RGC功能严重受损.在疾病进展过程中，四个象限的pRNFL厚度显着降低。在慢性期,pRNFL厚度略有下降。在病理变化发生之前，载体已经显示出RGC功能障碍，提示亚临床异常.
