Wang Min, Guo Hong, Li Shiying, Wang Gang, Long Yanling, Meng Xiaohong, Liu Bo, Liu Yong, Robson Anthony G, Yin Zheng Qin
Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Military Medical University), Chongqing, China.
Department of Medical Genetics, Third Military Medical University (Army Military Medical University), Chongqing, China.
J Ophthalmol. 2020 Mar 30;2020:4734276. doi: 10.1155/2020/4734276. eCollection 2020.
To review retrospectively the electrophysiological and structural changes in 13 Chinese patients with Leber hereditary optic neuropathy (LHON).
26 eyes of 13 patients with a genetically confirmed diagnosis of LHON were categorized into two groups according to the duration of the disease: group 1 (duration less than 3 months) and group 2 (duration between 3 months and 18 years). Clinical history, comprehensive visual electrophysiology, optical coherence tomography (OCT), and color fundus photography were performed.
Fundoscopy showed optic disc hyperemia in group 1 and optic atrophy in group 2. OCT measures of retinal nerve fiber layer (RNFL) thickness around the optic disc and surrounding macula were normal in group 1 but reduced in group 2 (10 of 10 eyes). The thickness of the retinal ganglion cell layer (GCL) plus inner plexiform layer (IPL) surrounding the macula reduced significantly in group 1 and group 2 compared with a healthy control group. Pattern ERG (PERG) P50 amplitude was normal, but the N95/P50 ratio reduced in most of group 1 (4 of 5 eyes) and in all of group 2 (11 eyes). PERG P50 peak time was abnormally short in group 2. Multifocal electroretinography (mfERG) showed subnormal responses associated with ring 1 (the central area) and ring 2 in group 1 and reductions in rings 1, 2, and 3 in group 2.
The study highlights differences in retinal structure and function between the acute and chronic stages of LHON in a group of Chinese patients. There is PERG evidence of retinal ganglion cell dysfunction and OCT evidence of GCL + IPL thinning in both groups, but there is additional peripapillary RNFL loss in the chronic stage, associated with more severe RGC dysfunction. There is multifocal ERG evidence of localized macular dysfunction in both acute and chronic groups. The study highlights the importance of comprehensive electrophysiological and structural assessments of the retina in LHON and is pertinent to studies that aim to monitor disease progression or the effects of future therapeutic interventions.
回顾性分析13例中国Leber遗传性视神经病变（LHON）患者的电生理和结构变化。
对13例经基因确诊的LHON患者的26只眼，根据病程分为两组：第1组（病程小于3个月）和第2组（病程在3个月至18年之间）。进行了临床病史、综合视觉电生理、光学相干断层扫描（OCT）和彩色眼底照相检查。
眼底镜检查显示，第1组视盘充血，第2组视神经萎缩。第1组视盘周围和黄斑周围视网膜神经纤维层（RNFL）厚度的OCT测量值正常，但第2组（10只眼中的10只）降低。与健康对照组相比，第1组和第2组黄斑周围视网膜神经节细胞层（GCL）加内丛状层（IPL）的厚度显著降低。图形视网膜电图（PERG）的P50波幅正常，但第1组大部分患者（5只眼中的4只）和第2组所有患者（11只眼）的N95/P50比值降低。第2组PERG的P50峰时异常缩短。多焦视网膜电图（mfERG）显示，第1组与第1环（中心区域）和第2环相关的反应低于正常，第2组第1、2和3环的反应降低。
该研究突出了一组中国LHON患者急性和慢性阶段视网膜结构和功能的差异。两组均有PERG证据表明视网膜神经节细胞功能障碍，OCT证据表明GCL + IPL变薄，但慢性期视乳头周围RNFL额外丢失，与更严重的RGC功能障碍相关。急性和慢性组均有多焦ERG证据表明黄斑局部功能障碍。该研究突出了LHON中视网膜综合电生理和结构评估的重要性，并且与旨在监测疾病进展或未来治疗干预效果的研究相关。
