频域OCT对LHON患者神经纤维层厚度的观察

目的 利用频域光学相干断层成像技术(OCT)测量Leber's遗传性视神经病变(LHON)患者视网膜神经纤维层(RNFL)厚度,描述LHON患者RNFL厚度变化的影像学特征.方法 回顾性病例对照研究.利用海德堡频域OCT分别对临床拟诊的LHON患者(33例66眼)、正常志愿者(67例67眼)进行环视盘和环黄斑RNFL厚度的测量;同时采集患者静脉血样,进行3个原发性mtDNA突变位点(G11778A,G3460A和T14484C)的检测.根据基因检测结果将临床拟诊的LHON病患者分为LHON组和疑似LHON组,应用单因素方差分析比较LHON组、疑似LHON组与正常对照组之间及两患病组之间视盘和黄斑颞侧、颞上、颞下、鼻侧、鼻上、鼻下及360°平均RNFL厚度的区别.结果 33例临床拟诊的LHON患者中确诊为LHON的患者18例,疑似LHON患者15例.LHON组、疑似LHON组、正常对照组三组之间,环视盘颞侧,颞上,颞下和鼻上的RNFL厚度差异有统计学意义(F值分别为145.14、11.25、57.10、4.48；P＜0.05),环黄斑颞侧、颞上、颞下、鼻侧、鼻上、鼻下的RNFL厚度差异均有统计学意义(F值分别为:24.07、67.01、85.99、130.21、121.90、128.66;P＜0.05)；两两比较示,LHON组较正常对照组环视盘除鼻侧、鼻下象限外的RNFL厚度均萎缩变薄(P＜0.05)；疑似LHON组较正常对照组环视盘颞侧、颞上、颞下的RNFL厚度萎缩变薄(P＜0.05)；LHON组与疑似LHON组比较,无论是环视盘还是环黄斑,各象限RNFL厚度间差异均无统计学意义(P＞0.05).结论 LHON不仅表现为乳斑束神经纤维层的萎缩,视盘颞上及颞下的弓形纤维也显著萎缩变薄,鼻侧神经纤维可相对保留.

Use of spectral-domain optical coherence tomography for observing the retinal nerve fiber layer thickness of patients with Leber's hereditary optic neuropathy

Objective To measure the changes in the peripapillary and perimacular retinal nerve fiber layei (RNFL) thickness.of patients with Leber's hereditary optic neuropathy (LHON) with spectral-domain optical coherence tomography (OCT).Methods In this retrospective case-control study,the peripapillary and perimacular RNFL thickness of clinical patients with LHON (33 people,66 eyes) and normal volunteers (67 people,67 eyes) was measured by Heidelberg OCT,and blood samples of clinical patients with LHON were collected from three primary mtDNA mutation points (G11778A,G3460A and T14484C).The patients were divided into two groups,the LHON group and those suspected of having LHON,based on their genetic diagnosis.The differences in the thickness of the peripapillary and perimacular RNFL were then compared.The comparisons included the temporal side,superior temporal quadrant,inferior temporal quadrant,nasal side,nasal superior quadrant,nasal inferior quadrant,and the average thickness of 360° RNFL.Results There were 18 LHON patients and 15 patients suspected of having LHON based on the mutation detection of the 33 clinical patients.Peripapillary RNFL had significant differences in the temporal quadrant,temporal superior quadrant,temporal inferior quadrant and nasal superior quadrant among the three groups (F=145.14,11.25,57.10,4.48,P＜0.05).Perimacular RNFL had significant differences in all quadrants (F=24.07,67.01,85.99,130.21,121.90,128.66,P＜0.05).The peripapillary RNFL of the LHON patients was thinner than that of the normal volunteers except for the nasal side and nasal inferior quadrant (P＜0.05).All quadrants of the perimacular RNFL of the LHON patients were thinner than that of the normal volunteers (P＜0.05).The peripapillary RNFL of the patients suspected of having LHON was thinner than that of the normal volunteers in the temporal quadrant,temporal superior quadrant,and temporal inferior quadrant (P＜0.05).All quadrants of the perimacular RNFL of patients suspected of having LHON were thinner than those of the normal volunteers (P＜0.05).Conclusion In later stages,the LHON patients presented with an optic atrophy,not only in the papillomacular bundle,but also in the superior and inferior temporal quadrants.The nerve fibers of the nasal quadrant are relatively unchanged.