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Abstract：
OBJECTIVE: To evaluate the functional and structural changes of photoreceptors in patients and asymptomatic carriers with Leber hereditary optic neuropathy (LHON) using full-field electroretinography (FERG) and optical coherence tomography (OCT).
METHODS: Individuals diagnosed with LHON at the Renmin Hospital of Wuhan University and their family members were included in this cross-sectional observational study. The FERG a-wave amplitude of affected patients and asymptomatic carriers was analyzed. The thickness of the outer nuclear layer (ONL), inner and outer segment (IS/OS) and total photoreceptors in the macular fovea and parafovea were measured.
RESULTS: This study included 14 LHON patients (mean age: 20.00±9.37y), 12 asymptomatic carriers (mean age: 39.83±6.48y), and 14 normal subjects (mean age: 24.20±1.52y). The FERG results showed that the dark-adapted 3.0 electroretinography and light-adapted 3.0 electroretinography a-wave amplitudes of patients and carriers were significantly decreased (P<0.001). The ONL and photoreceptors layers were slightly thicker in patients than in normal subjects (P<0.05), whereas they were thinner in carriers (P<0.05). There were no differences in IS/OS thickness among the groups (P>0.05).
CONCLUSIONS: Photoreceptors function is significantly impaired in LHON-affected patients and asymptomatic carriers. Meanwhile, photoreceptors morphology is slightly altered, mainly manifesting as a change in ONL thickness.
METHODS: Individuals diagnosed with LHON at the Renmin Hospital of Wuhan University and their family members were included in this cross-sectional observational study. The FERG a-wave amplitude of affected patients and asymptomatic carriers was analyzed. The thickness of the outer nuclear layer (ONL), inner and outer segment (IS/OS) and total photoreceptors in the macular fovea and parafovea were measured.
RESULTS: This study included 14 LHON patients (mean age: 20.00±9.37y), 12 asymptomatic carriers (mean age: 39.83±6.48y), and 14 normal subjects (mean age: 24.20±1.52y). The FERG results showed that the dark-adapted 3.0 electroretinography and light-adapted 3.0 electroretinography a-wave amplitudes of patients and carriers were significantly decreased (P<0.001). The ONL and photoreceptors layers were slightly thicker in patients than in normal subjects (P<0.05), whereas they were thinner in carriers (P<0.05). There were no differences in IS/OS thickness among the groups (P>0.05).
CONCLUSIONS: Photoreceptors function is significantly impaired in LHON-affected patients and asymptomatic carriers. Meanwhile, photoreceptors morphology is slightly altered, mainly manifesting as a change in ONL thickness.
摘要：
目的：使用全视野视网膜电图（FERG）和光学相干断层扫描（OCT）评估Leber遗传性视神经病变（LHON）患者和无症状携带者的光感受器的功能和结构变化。
方法：将武汉大学人民医院诊断为LHON的患者及其家属纳入本横断面观察性研究。分析了受影响患者和无症状携带者的FERGa波振幅。外核层（ONL）的厚度，测量了黄斑中央凹和副凹的内，外节（IS/OS）和总光感受器。
结果：本研究包括14名LHON患者（平均年龄：20.00±9.37岁），12名无症状携带者（平均年龄：39.83±6.48岁），14名正常人(平均年龄:24.20±1.52岁)。FERG结果显示，患者和携带者的暗适应3.0视网膜电图和光适应3.0视网膜电图a波振幅均明显降低（P<0.001）。患者的ONL和光感受器层比正常人略厚（P<0.05），而携带者较薄(P<0.05)。各组间IS/OS厚度差异无统计学意义(P>0.05)。
结论：受LHON影响的患者和无症状携带者的光感受器功能明显受损。同时,光感受器形态略有改变，主要表现为ONL厚度的变化。
方法：将武汉大学人民医院诊断为LHON的患者及其家属纳入本横断面观察性研究。分析了受影响患者和无症状携带者的FERGa波振幅。外核层（ONL）的厚度，测量了黄斑中央凹和副凹的内，外节（IS/OS）和总光感受器。
结果：本研究包括14名LHON患者（平均年龄：20.00±9.37岁），12名无症状携带者（平均年龄：39.83±6.48岁），14名正常人(平均年龄:24.20±1.52岁)。FERG结果显示，患者和携带者的暗适应3.0视网膜电图和光适应3.0视网膜电图a波振幅均明显降低（P<0.001）。患者的ONL和光感受器层比正常人略厚（P<0.05），而携带者较薄(P<0.05)。各组间IS/OS厚度差异无统计学意义(P>0.05)。
结论：受LHON影响的患者和无症状携带者的光感受器功能明显受损。同时,光感受器形态略有改变，主要表现为ONL厚度的变化。
