18例乙胺丁醇中毒性视神经病变的临床特点

目的 归纳乙胺丁醇中毒性视神经病变（EON）患者的临床特点,并探讨其预后。设计 回顾性病例系列。研究对象 2011年6月至2015年6月解放军总医院EON患者18例36眼。方法 分析所有入组患者的病例资料,记录其人口学特征、临床表现。跟踪随访6~50个月,进一步分析其预后。主要指标 人口学特征、矫正视力、色觉、视野、视网膜神经纤维层（RNFL）厚度、视觉诱发电位（VEP）、结核病侵袭部位及预后。结果 平均发病年龄（40.56±12.57）岁,全部为双眼发病,其中男性11例（61.1%）。30眼（83.3%）色觉障碍。17例双眼视野缺损类型一致,23眼（63.9%）呈中心视野缺损。初诊时矫正视力0.09±0.59（手动~0.25）。乙胺丁醇每日剂量（17.06±5.62）mg/kg,服用时间（5.97±5.12）个月。随访时间（30.27±16.18）个月。停乙胺丁醇后,6例（33.3%）患者视力较前提高（初始视力0.17 ± 0.67 vs.治疗后视力0.33± 0.49）,视力改善（6例）和视力未改善（12例）的两组患者之间的每日服药剂量分别为（13.31±3.98）mg/kg和（18.50±3.15）mg/kg（P=0.037）。随访中8例（16眼）复查相干光断层扫描,视盘颞侧、上方、鼻侧所对应的RNFL不同程度较前变薄。结论 乙胺丁醇中毒性视神经病变多见于中老年男性,易累及双眼,约1/3的患者停药同时给予治疗后视力可好转。（眼科,2016, 25： 123-126）     

青盲一号方治疗中毒性视神经萎缩的疗效分析

目的:评价青盲一号方治疗中毒性视神经萎缩的临床疗效。方法:分析2013-01/2018-02于北京中医药大学东方医院眼科采用青盲一号方治疗的肝郁血虚型中毒性视神经萎缩患者7例13眼,随访6~24mo,观察治疗前后视力、视野、电生理及视网膜神经纤维层(RNFL)厚度等指标的变化,综合评估青盲一号方的临床疗效。结果:本研究纳入患者中乙胺丁醇中毒者5例10眼,酒精中毒者1例1眼,狂犬疫苗中毒者1例2眼。治疗前4例8眼患者行OCT检查示鼻侧与颞侧RNFL厚度已发生明显薄变,末次随访时各象限厚度仍呈下降趋势。至末次随访时,视力提高≥0.1者4眼(31%),提高0.06~<0.1者2眼(15%),提高0.04~<0.06者1眼(8%),提高0.01~<0.04者4眼(31%),视力无提高者2眼(15%);青盲一号方治疗显效3眼(27%),有效4眼(36%),无效4眼(36%),总有效率为64%。结论:青盲一号方能够延缓视神经萎缩的进展,可在一定程度上改善视功能,发挥视神经保护的作用。     

感染相关性视神经周围炎临床及影像学特征

目的探讨感染相关性视神经周围炎的临床及影像学特征。设计回顾性病例系列。研究对象2011年4月至2014年1月北京同仁医院神经内科和北京友谊医院眼科诊治的视神经周围炎病例10例。方法回顾分析患者的临床、影像及实验室资料,并进行随访。用SPSS软件进行数据统计。主要指标临床表现、实验室检查、影像学特征及预后。结果 10例患者中女性7例。平均发病年龄(33.8±12.7)岁(14~51岁)。10例患者16眼受累,视力在0.1以下10眼(62.5%);至少1眼视力低于0.1者8例(80%)。16只受累眼中有轻到中度视盘水肿者13眼(81.3%),其中2眼伴视盘周围火焰状出血。全部患者完成至少1次头颅MRI检查,其中7例进行了增强扫描并均发现有视神经鞘强化。所有患者均接受了糖皮质激素治疗,其中2例同时接受了抗病毒药物治疗。平均随访(854.1±198.1)天(400~1035天)。除4眼最终随访视力0.5以下,其余均恢复至1.0或以上。结论感染相关性视神经周围炎与原发脱髓鞘性视神经炎临床表现类似,但双眼受累更多见,视盘水肿及盘周出血更明显,可能与前驱感染相关。影像学表现为视神经信号增高及增粗,增强后可见视神经鞘强化,需与视神经鞘膜瘤鉴别。经糖皮质激素治疗后视功能大多数恢复较好。     

非动脉炎型前部缺血性视神经病变的光相干断层扫描特征

目的 观察非动脉炎型前部缺血性视神经病变(NAl0N)患者视盘及盘周视网膜神经纤维(RNFL)厚度变化特征.方法 利用光相干断层扫描(OCT)对NA10N患者96例108只眼的视盘进行环形和十字交叉纵横扫描,分析患者视盘及盘周RNFL厚度变化.其中,水肿期96例96只眼,水肿消退期37例41只眼.同时选取单眼发病患者的84只对侧健康眼作为对照.随访时间2周～24个月,平均随访时间6个月. 结果视盘水肿期患者十字交叉纵横扫描显示,盘周RNFL较对侧健康眼增厚,59只眼非缺血区RNFL增厚更显著,即盘周RNFL厚度非缺血区大于缺血区,占视盘水肿期患者的61%,26只眼缺血区RNFL厚度大于非缺血区,非缺血区RNFL厚度在正常范围,占视盘水肿期患者的27%;11例11只眼盘周缺血区与非缺血区RNFL厚度无差异,隆起厚度均大于对侧健康眼厚度,占视盘水肿期患者的12%.十字交叉纵横扫描显示,除视杯狭窄较浅或无杯的形态外,其他与环形扫描一样均显示以视盘缺血区水肿消退最快,平均时间为2周左右,而非缺血区水肿消退时间为3～6周.水肿消退期患者在水肿消退1个月内视盘缺血区RNFL均变薄,其厚度低于非缺血区和对侧健康眼,占本期患者的95%;在水肿消退≥3个月时,26例患者整个盘周RNFL厚度≤对侧健康眼,视盘缺血区与非缺血区RNFL均表现为持续性萎缩性薄变,且盘周缺血区RNFL厚度薄于非缺血区;占本期患者的70%. 结论NAION水肿期盘周RNFL厚度较对侧健康眼增厚,且多数患者非缺血区高于缺血区;水肿消退期盘RNFL厚度均低于对侧健康眼.     

非动脉炎型前部缺血性视神经病变的光相干断层扫描特征

目的 观察非动脉炎型前部缺血性视神经病变(NAl0N)患者视盘及盘周视网膜神经纤维(RNFL)厚度变化特征.方法 利用光相干断层扫描(OCT)对NA10N患者96例108只眼的视盘进行环形和十字交叉纵横扫描,分析患者视盘及盘周RNFL厚度变化.其中,水肿期96例96只眼,水肿消退期37例41只眼.同时选取单眼发病患者的84只对侧健康眼作为对照.随访时间2周～24个月,平均随访时间6个月. 结果视盘水肿期患者十字交叉纵横扫描显示,盘周RNFL较对侧健康眼增厚,59只眼非缺血区RNFL增厚更显著,即盘周RNFL厚度非缺血区大于缺血区,占视盘水肿期患者的61%,26只眼缺血区RNFL厚度大于非缺血区,非缺血区RNFL厚度在正常范围,占视盘水肿期患者的27%;11例11只眼盘周缺血区与非缺血区RNFL厚度无差异,隆起厚度均大于对侧健康眼厚度,占视盘水肿期患者的12%.十字交叉纵横扫描显示,除视杯狭窄较浅或无杯的形态外,其他与环形扫描一样均显示以视盘缺血区水肿消退最快,平均时间为2周左右,而非缺血区水肿消退时间为3～6周.水肿消退期患者在水肿消退1个月内视盘缺血区RNFL均变薄,其厚度低于非缺血区和对侧健康眼,占本期患者的95%;在水肿消退≥3个月时,26例患者整个盘周RNFL厚度≤对侧健康眼,视盘缺血区与非缺血区RNFL均表现为持续性萎缩性薄变,且盘周缺血区RNFL厚度薄于非缺血区;占本期患者的70%. 结论NAION水肿期盘周RNFL厚度较对侧健康眼增厚,且多数患者非缺血区高于缺血区;水肿消退期盘RNFL厚度均低于对侧健康眼.     

非动脉炎型前部缺血性视神经病变的光相干断层扫描特征

目的 观察非动脉炎型前部缺血性视神经病变(NAl0N)患者视盘及盘周视网膜神经纤维(RNFL)厚度变化特征.方法 利用光相干断层扫描(OCT)对NA10N患者96例108只眼的视盘进行环形和十字交叉纵横扫描,分析患者视盘及盘周RNFL厚度变化.其中,水肿期96例96只眼,水肿消退期37例41只眼.同时选取单眼发病患者的84只对侧健康眼作为对照.随访时间2周～24个月,平均随访时间6个月. 结果视盘水肿期患者十字交叉纵横扫描显示,盘周RNFL较对侧健康眼增厚,59只眼非缺血区RNFL增厚更显著,即盘周RNFL厚度非缺血区大于缺血区,占视盘水肿期患者的61%,26只眼缺血区RNFL厚度大于非缺血区,非缺血区RNFL厚度在正常范围,占视盘水肿期患者的27%;11例11只眼盘周缺血区与非缺血区RNFL厚度无差异,隆起厚度均大于对侧健康眼厚度,占视盘水肿期患者的12%.十字交叉纵横扫描显示,除视杯狭窄较浅或无杯的形态外,其他与环形扫描一样均显示以视盘缺血区水肿消退最快,平均时间为2周左右,而非缺血区水肿消退时间为3～6周.水肿消退期患者在水肿消退1个月内视盘缺血区RNFL均变薄,其厚度低于非缺血区和对侧健康眼,占本期患者的95%;在水肿消退≥3个月时,26例患者整个盘周RNFL厚度≤对侧健康眼,视盘缺血区与非缺血区RNFL均表现为持续性萎缩性薄变,且盘周缺血区RNFL厚度薄于非缺血区;占本期患者的70%. 结论NAION水肿期盘周RNFL厚度较对侧健康眼增厚,且多数患者非缺血区高于缺血区;水肿消退期盘RNFL厚度均低于对侧健康眼.     

非动脉炎型前部缺血性视神经病变的光相干断层扫描特征

目的 观察非动脉炎型前部缺血性视神经病变(NAl0N)患者视盘及盘周视网膜神经纤维(RNFL)厚度变化特征.方法 利用光相干断层扫描(OCT)对NA10N患者96例108只眼的视盘进行环形和十字交叉纵横扫描,分析患者视盘及盘周RNFL厚度变化.其中,水肿期96例96只眼,水肿消退期37例41只眼.同时选取单眼发病患者的84只对侧健康眼作为对照.随访时间2周～24个月,平均随访时间6个月. 结果视盘水肿期患者十字交叉纵横扫描显示,盘周RNFL较对侧健康眼增厚,59只眼非缺血区RNFL增厚更显著,即盘周RNFL厚度非缺血区大于缺血区,占视盘水肿期患者的61%,26只眼缺血区RNFL厚度大于非缺血区,非缺血区RNFL厚度在正常范围,占视盘水肿期患者的27%;11例11只眼盘周缺血区与非缺血区RNFL厚度无差异,隆起厚度均大于对侧健康眼厚度,占视盘水肿期患者的12%.十字交叉纵横扫描显示,除视杯狭窄较浅或无杯的形态外,其他与环形扫描一样均显示以视盘缺血区水肿消退最快,平均时间为2周左右,而非缺血区水肿消退时间为3～6周.水肿消退期患者在水肿消退1个月内视盘缺血区RNFL均变薄,其厚度低于非缺血区和对侧健康眼,占本期患者的95%;在水肿消退≥3个月时,26例患者整个盘周RNFL厚度≤对侧健康眼,视盘缺血区与非缺血区RNFL均表现为持续性萎缩性薄变,且盘周缺血区RNFL厚度薄于非缺血区;占本期患者的70%. 结论NAION水肿期盘周RNFL厚度较对侧健康眼增厚,且多数患者非缺血区高于缺血区;水肿消退期盘RNFL厚度均低于对侧健康眼.     

非动脉炎型前部缺血性视神经病变的光相干断层扫描特征

目的 观察非动脉炎型前部缺血性视神经病变（NAION）患者视盘及盘周视网膜神经纤维(RNFL)厚度变化特征。方法 利用光相干断层扫描（OCT）对NAION患者96例108只眼的视盘进行环形和十字交叉纵横扫描,分析患者视盘及盘周RNFL厚度变化。其中,水肿期96例96只眼,水肿消退期37例41只眼。同时选取单眼发病患者的84只对侧健康眼作为对照。随访时间2周~24个月,平均随访时间6个月。结果 视盘水肿期患者十字交叉纵横扫描显示,盘周RNFL较对侧健康眼增厚,59只眼非缺血区RNFL增厚更显著,即盘周RNFL厚度非缺血区大于缺血区,占视盘水肿期患者的61%;26只眼缺血区RNFL厚度大于非缺血区,非缺血区RNFL厚度在正常范围,占视盘水肿期患者的27%;11例11只眼盘周缺血区与非缺血区RNFL厚度无差异,隆起厚度均大于对侧健康眼厚度,占视盘水肿期患者的12%。十字交叉纵横扫描显示,除视杯狭窄较浅或无杯的形态外,其他与环形扫描一样均显示以视盘缺血区水肿消退最快,平均时间为2周左右,而非缺血区水肿消退时间为3~6周。水肿消退期患者在水肿消退1个月内视盘缺血区RNFL均变薄,其厚度低于非缺血区和对侧健康眼,占本期患者的95%;在水肿消退≥3个月时,26例患者整个盘周RNFL厚度≤对侧健康眼,视盘缺血区与非缺血区RNFL均表现为持续性萎缩性薄变,且盘周缺血区RNFL厚度薄于非缺血区;占本期患者的70%。结论 NAION水肿期盘周RNFL厚度较对侧健康眼增厚,且多数患者非缺血区高于缺血区;水肿消退期盘RNFL厚度均低于对侧健康眼。     

非动脉炎型前部缺血性视神经病变的光相干断层扫描特征

目的 观察非动脉炎型前部缺血性视神经病变(NAl0N)患者视盘及盘周视网膜神经纤维(RNFL)厚度变化特征.方法 利用光相干断层扫描(OCT)对NA10N患者96例108只眼的视盘进行环形和十字交叉纵横扫描,分析患者视盘及盘周RNFL厚度变化.其中,水肿期96例96只眼,水肿消退期37例41只眼.同时选取单眼发病患者的84只对侧健康眼作为对照.随访时间2周～24个月,平均随访时间6个月. 结果视盘水肿期患者十字交叉纵横扫描显示,盘周RNFL较对侧健康眼增厚,59只眼非缺血区RNFL增厚更显著,即盘周RNFL厚度非缺血区大于缺血区,占视盘水肿期患者的61%,26只眼缺血区RNFL厚度大于非缺血区,非缺血区RNFL厚度在正常范围,占视盘水肿期患者的27%;11例11只眼盘周缺血区与非缺血区RNFL厚度无差异,隆起厚度均大于对侧健康眼厚度,占视盘水肿期患者的12%.十字交叉纵横扫描显示,除视杯狭窄较浅或无杯的形态外,其他与环形扫描一样均显示以视盘缺血区水肿消退最快,平均时间为2周左右,而非缺血区水肿消退时间为3～6周.水肿消退期患者在水肿消退1个月内视盘缺血区RNFL均变薄,其厚度低于非缺血区和对侧健康眼,占本期患者的95%;在水肿消退≥3个月时,26例患者整个盘周RNFL厚度≤对侧健康眼,视盘缺血区与非缺血区RNFL均表现为持续性萎缩性薄变,且盘周缺血区RNFL厚度薄于非缺血区;占本期患者的70%. 结论NAION水肿期盘周RNFL厚度较对侧健康眼增厚,且多数患者非缺血区高于缺血区;水肿消退期盘RNFL厚度均低于对侧健康眼.     

非动脉炎型前部缺血性视神经病变的光相干断层扫描特征

目的 观察非动脉炎型前部缺血性视神经病变(NAl0N)患者视盘及盘周视网膜神经纤维(RNFL)厚度变化特征.方法 利用光相干断层扫描(OCT)对NA10N患者96例108只眼的视盘进行环形和十字交叉纵横扫描,分析患者视盘及盘周RNFL厚度变化.其中,水肿期96例96只眼,水肿消退期37例41只眼.同时选取单眼发病患者的84只对侧健康眼作为对照.随访时间2周～24个月,平均随访时间6个月. 结果视盘水肿期患者十字交叉纵横扫描显示,盘周RNFL较对侧健康眼增厚,59只眼非缺血区RNFL增厚更显著,即盘周RNFL厚度非缺血区大于缺血区,占视盘水肿期患者的61%,26只眼缺血区RNFL厚度大于非缺血区,非缺血区RNFL厚度在正常范围,占视盘水肿期患者的27%;11例11只眼盘周缺血区与非缺血区RNFL厚度无差异,隆起厚度均大于对侧健康眼厚度,占视盘水肿期患者的12%.十字交叉纵横扫描显示,除视杯狭窄较浅或无杯的形态外,其他与环形扫描一样均显示以视盘缺血区水肿消退最快,平均时间为2周左右,而非缺血区水肿消退时间为3～6周.水肿消退期患者在水肿消退1个月内视盘缺血区RNFL均变薄,其厚度低于非缺血区和对侧健康眼,占本期患者的95%;在水肿消退≥3个月时,26例患者整个盘周RNFL厚度≤对侧健康眼,视盘缺血区与非缺血区RNFL均表现为持续性萎缩性薄变,且盘周缺血区RNFL厚度薄于非缺血区;占本期患者的70%. 结论NAION水肿期盘周RNFL厚度较对侧健康眼增厚,且多数患者非缺血区高于缺血区;水肿消退期盘RNFL厚度均低于对侧健康眼.     

玻璃体手术治疗视网膜中央静脉阻塞伴黄斑水肿

目的 观察玻璃体手术治疗视网膜中央静脉阻塞(CRVO)伴黄斑水肿的临床疗效.方法 取临床诊断为缺血性CRVO伴黄斑水肿的连续病例36例(36眼).根据手术时间先后分为放射状视神经切开术(RON)组和玻璃体切除与周边视网膜光凝术(PPV/PE)组,随访(28.6±6.3)个月.对比观察各个时段的视力、视野、黄斑中心凹厚度及眼底改变情况.结果 1个月内RON组4只眼视力提高,PPV/PE组6只眼视力提高.1年以上追踪观察RON组8只眼视力提高,4只眼视力不变,2只眼视力下降,PPV/PE组12只眼视力提高.8只眼视力不变,4只眼视力下降,两组最好矫正视力均无≥0.5,≥0.1者占50%.两组1个月及一年时段视力提高≥0.1者对比差异无统计学意义(P>0.05),两组对黄斑中心凹的视网膜厚度经OCT测量均有持续明显的减轻.RON组4只眼视神经切开部位萎缩.结论 对于缺血性CRVO伴黄斑水肿的玻璃体手术的治疗,从视力改变及黄斑水肿减轻的角度出发,RON组和PPV/PE组无明显区别,且RON存在着视神经萎缩的并发症.临床应首选简单易行的PPV/PE手术.     

Mitochondrial abnormalities in patients with LHON-like optic neuropathies

PURPOSE: To investigate certain biochemical and molecular characteristics of mitochondria in patients with Leber hereditary optic neuropathy (LHON)-like optic neuropathies. METHODS: Patients who had LHON-like optic neuropathies in both eyes were selected from neuro-ophthalmology clinics. Evaluation included clinical examination, neuroimaging, and assessment of several mitochondrial parameters in the blood, including sequencing the entire mitochondrial (mt)DNA coding region, measuring relative mtDNA content, studying mitochondrial respiratory function in some patients, and sequencing the OPA1 and OPA3 genes. RESULTS: Thirty-five patients (21 men and 14 women; average age at onset 19.0 +/- 8.7 years) met inclusion and exclusion criteria for LHON-like optic neuropathies with median visual acuity approximately 20/200. Other hereditary retinopathies and optic neuropathies were unlikely because of inclusion and exclusion criteria, because ERGs were normal, and because no patient had pathogenic sequence changes in the OPA1 or OPA3 genes. Compared with control subjects, these patients had more potentially pathogenic nonsynonymous mtDNA changes, greater relative mtDNA content (P < 0.001), and less mitochondrial respiratory activity (P < 0.001). Only six patients (17%) had primary LHON mutations; however, even the 29 patients without primary LHON mutations had significant evidence of mitochondrial abnormalities. Mitochondrial haplogroup distribution was similar in patients and control subjects. CONCLUSIONS: Primary LHON mutations are less common in patients with LHON-like optic neuropathy selected from a clinical setting than in patients with LHON from multigenerational families. The results suggest that mitochondrial dysfunction plays a role in this type of optic neuropathy whether or not primary LHON mutations are present. This information has implications for diagnostic testing and for future investigations into mechanisms of disease.     

G11778A位点突变的9例Leber遗传性视神经病变患者的临床特征

目的：探讨经线粒体DNA分析(mtDNA)确诊为G11778A位点突变阳性的9例Leber遗传性视神经病变( LHON )患者的临床特征。
　　方法：收集2012-12/2015-12就诊于深圳市眼科医院门诊行mtDNA检测均为G11778 A突变的9例LHON患者的临床资料,随访并总结其临床特征。
　　结果：所选9例患者中,有母系遗传者6例(67%),散发病例3例(33%)。就诊年龄9~43(平均22.00±9.42)岁。其中双眼同时发病5例(56%);双眼先后发病4例(44%)。发病者男女比例为2：1。末次随访时,数指2眼(11%);0.01~0.1者12眼(67%);0.12~0.4者2眼(11%);≥0.4者2眼(11%)。所有患者均表现为视盘色苍白、边界清楚。视野检查表现为中心暗点或者旁中心暗点10眼,表现为弥漫性视野损害8眼。
　　结论：此次收集的9例G11778 A位点突变的LHON患者中,双眼同时发病较1a内单眼先后发病的患者的情况更为多见。病程末期视力稳定病例较视力持续损害病例多。少数患者在1a内患眼有视力提高的情况。视野缺损表现多见中心暗点或者旁中心暗点,病程末期可见视野弥漫性缺损。继发眼的视野损害与先发作眼视野表现类似。     

应用OCT检测乙胺丁醇对视网膜神经纤维层的损害

目的应用OCT测量服用乙胺丁醇的结核患者的视网膜神经纤维层（RNFL）厚度,探讨乙胺丁醇对视神经纤维的影响,以及OCT在诊断中毒性视神经早期病变中的价值。方法横断面研究。分析眼科门诊收集的93例（185眼）服用乙胺丁醇的结核患者,其中短疗程组（服用乙胺丁醇2个月）共49例（97眼）,长疗程组（服乙胺丁醇6个月以上）共44例（88眼）,以未开始抗结核治疗的结核患者作为对照组,共46例（92眼）,应用OCT测量 3组各象限RNFL厚度,并进行单因素方差分析及两两比较,此外对所有患者进行眼科常规检查包括视力、眼压、色觉、裂隙灯、眼底、视野检查。结果短疗程组RNFL厚度：颞侧（90.35±12.58）μm,下方（145.91±17.18）μm,鼻侧（93.18±16.9）μm,上方（139.07±18.65）μm,平均厚度为（117.01±10.14）μm。长疗程组：颞侧（79.75±17.14）μm,下方（135.47±19.14）μm,鼻侧（91.17±20.23）μm,上方（130.44±21.50）μm,平均厚度（109.24±14.36）μm。对照组：颞侧（95.43±15.61）μm,下方（139.92±15.35）μm,鼻侧（90.06±15.61）μm,上方（140.71±19.02）μm,平均厚度为（116.49±11.49）μm。与对照组相比,短疗程组各象限RNFL厚度差异无统计学意义（P>0.05）,而长疗程组的颞侧（P<0.01）、上方（P<0.05）及平均RNFL值（P<0.05）均较对照组薄,差异有统计学意义。在185眼中有6眼诊断为乙胺丁醇中毒性视神经病变,其各象限RNFL较对照组薄。结论短期服用乙胺丁醇（0.75 g·d-1）的患者未出现明显视神经纤维丢失及视功能损害,而长期服药者可出现RNFL的变薄,尤其是颞侧象限,这对诊断乙胺丁醇中毒性视神经早期病变有一定临床意义。     

乙胺丁醇相关视神经病变

乙胺丁醇(ethambutol, EMB)是一种在临床广泛应用的一线抗结核药物,其具有的眼毒性是EMB最重要且严重的并发症。早期的乙胺丁醇相关视神经病变(ethambutol optic neuropathy,EON)是可逆的,延迟的诊断会导致永久性视力丧失。早期检测在EON的治疗中有重要作用。本文就EON的危险因素、早期检测、治疗和预防做一综述。     

Optical coherence tomography can measure axonal loss in patients with ethambutol-induced optic neuropathy

Purpose To map and identify the pattern, in vivo, of axonal degeneration in ethambutol-induced optic neuropathy using optical coherence tomography (OCT). Ethambutol is an antimycobacterial agent often used to treat tuberculosis. A serious complication of ethambutol is an optic neuropathy that impairs visual acuity, contrast sensitivity, and color vision. However, early on, when the toxic optic neuropathy is mild and partly reversible, the funduscopic findings are often subtle and easy to miss.Methods Three subjects with a history of ethambutol (EMB)-induced optic neuropathy of short-, intermediate-, and long-term visual deficits were administered a full neuro-ophthalmologic examination including visual acuity, color vision, contrast sensitivity, and fundus examination. In addition, OCT (OCT 3000, Humphrey-Zeiss, Dublin, CA) was performed on both eyes of each subject using the retinal nerve fiber layer (RNFL) analysis protocol. OCT interpolates data from 100 points around the optic nerve to effectively map out the RNFL.Results The results were compared to the calculated average RNFL of normal eyes accumulated from four prior studies using OCT, n=661. In all subjects with history of EMB-induced optic neuropathy, there was a mean loss of 72% nerve fiber layer thickness in the temporal quadrant (patient A, with eventual recovery of visual acuity and fields, 58% loss; patient B, with intermediate visual deficits, 68% loss; patient C, with chronic visual deficits, 90% loss), with an average mean optic nerve thickness of 26±16 m. There was a combined mean loss of 46% of fibers from the superior, inferior, and nasal quadrants in the (six) eyes of all three subjects (mean average thickness of 55±29 m). In both sets (four) of eyes of the subjects with persistent visual deficits (patients B and C), there was an average loss of 79% of nerve fiber thickness in the temporal quadrant.Conclusions The OCT results in these patients with EMB-induced optic neuropathy show considerable loss especially of the temporal fibers. This is consistent with prior histopathological studies that show predominant loss of parvo-cellular axons (or small-caliber axons) within the papillo-macular bundle in toxic or hereditary optic neuropathies. OCT can be a valuable tool in the quantitative analysis of optic neuropathies. Additionally, in terms of management of EMB-induced optic neuropathy, it is important to properly manage ethambutol dosing in patients with renal impairment and to achieve proper transition to a maintenance dose once an appropriate loading dose has been reached.The authors have no relevant financial interest in this article.     

A novel mutation of the OPA1 gene responsible for isolated autosomal dominant optic atrophy in two brothers

Autosomal dominant optic atrophy, or Kjer disease, is the most frequent form of autosomal dominant optic neuropathy. We report a novel mutation of the OPA1 gene in two brothers with autosomal dominant optic atrophy and describe their clinical features. The two patients, aged 41 and 37, presented with a bilateral visual impairment that had been detected at the age of 4 in both of them. Their ophthalmoscopic examinations disclosed a bilateral optic atrophy and their Goldmann visual fields showed cecocentral scotomas. The patients thought their disease might be a Leber's hereditary optic neuropathy; however, mutations had ever been sought. When first seen by us, they wished to know whether their disorder might be transmitted to their children. They had a family history of visual impairment. We carried out mtDNA sequencing but we did not identify any primary or rare Leber's hereditary optic neuropathy mutations. On the other hand, the 30 coding exons of the OPA1 gene and the intron-exon junctions were amplified by polymerase chain reaction and sequenced. A novel mutation of the OPA1 gene was found in both brothers: a deletion of four nucleotides in intron 19, associated with anomalous splicing, demonstrating the pathogenicity of the mutation. These molecular analyses contributed to identifying a novel mutation of the OPA1 gene with a clinical phenotype of isolated optic atrophy.     

30岁以后发病的Leber遗传性视神经病变患者的临床特征

目的 观察30岁以后发病的Leber遗传性视神经病变（LHON）患者的临床特征。方法 临床确诊为LHON的9例患者18只眼纳入研究。所有患者均为男性。发病年龄34~56岁,平均年龄（45.22±6.91）岁。病程7 d~21个月,病程中位数5个月。所有患者均详细询问病史及家族史,并行视力、裂隙灯显微镜、直接检眼镜、色觉、眼底照相检查。6例11只眼同时行视野检查。观察患者的各项检查表现。抽取患者静脉血进行线粒体DNA（mtDNA）检测,分析其基因突变位点。平均随访时间12个月,随访观察患者的视力情况。结果 9例患者中,有家族史者7例,占77.78%。双眼同时发病5例,占55.56%;双眼先后发病4例,占44.44%。视力突然下降3例,占33.33%;逐渐下降6例,占66.67%。18只眼中,视力光感1只眼,占5.55%;数指3只眼,占16.67%;0.01~0.1 者7只眼,占38.89%;0.12~0.3者3只眼,占16.67%;≥0.4者4只眼,占22.22%。瞳孔对光反射正常16只眼,占88.88%;瞳孔直接对光反射消失1只眼,占5.55%;瞳孔传入障碍1只眼,占5.55%。视盘颜色淡红、边界清楚8只眼,占44.44%;视盘充血、边界模糊、视盘表面毛细血管扩张3只眼,占16.67%;视盘颜色淡白、边界清楚7只眼,占38.89%。行视野检查的11只眼中,表现为中心暗点或旁中心暗点9只眼,占81.82%;表现为视野缩窄2只眼,占18.18%。mtDNA检测发现,9例患者中,G11778A位点突变阳性7例,占77.78%;T14484C位点突变阳性1例,占11.11%;G11696A位点突变阳性1例,占11.11%。末次随访时,18只眼中,视力光感1只眼,占5.55%;数指4只眼,占22.22%;0.01~0.1者6只眼,占33.33%;0.12~0.3者3只眼,占16.67%;≥0.4者4只眼,占22.22%。视力提高9只眼,占50.00%;稳定7只眼,占38.89%;下降2只眼,占11.11%。结论 30岁以后发病的LHON多发生于男性患者,瞳孔对光反射大多正常,视野主要表现为中心暗点或旁中心暗点,以G11778A位点基因突变为多见。     

Leber's hereditary optic neuropathy masquerading as optic neuritis with spontaneous visual recovery

We report a case of Leber's hereditary optic neuropathy (LHON) masquerading as optic neuritis with late visual recovery. A 28‐year‐old man had gradual visual loss in both eyes for two weeks. Visual acuity was 0.4 in the right eye and 0.7 in the left. Fundus examination revealed hyperaemic discs in each eye. Fluorescein angiography revealed dye leakage at both optic discs in the late phase. Static perimetry (Humphrey 30‐2) revealed bilateral relative central scotomata. Magnetic resonance imaging of the optic nerves was normal and his lumbar puncture showed normal opening pressure. He received steroid pulse therapy for three days. Nevertheless, vision in his right eye deteriorated to 0.1 one month later and left vision worsened to 0.05 six months later. Fifteen months after onset, his vision began to improve. At 21 months, his vision recovered to 0.9 R and 1.0 L. Peripheral blood DNA sequencing revealed 14484 mutation of mitochondrial DNA (mtDNA). Visual recovery can occur in patients with Leber's hereditary optic neuropathy with mtDNA 14484 mutation. LHON could be misdiagnosed as optic neuritis in some cases. Molecular examination of mtDNA mutation can confirm the diagnosis of LHON in clinically controversial patients. We should keep in mind the diagnosis of LHON when optic neuritis shows poor response to pulse therapy.