Leber遗传性视神经病
Leber hereditary optic neuropathy
定义 英文原文（暂无中文）
A rare hereditary optic neuropathy characterized by sudden onset, painless central vision loss, loss of retinal ganglion cells and optic atrophy.
别名
leber视神经萎缩
基本事实
- 遗传方式
- 线粒体遗传
- 发病年龄
- 青少年期、成年期
- 患病率
- 1-9 / 100 000（Netherlands）
相关基因 12
| 基因 | 名称 | 关联类型 |
|---|---|---|
| MT-ATP6 | mitochondrially encoded ATP synthase membrane subunit 6 | Disease-causing germline mutation(s) in |
| MT-CO1 | mitochondrially encoded cytochrome c oxidase I | Candidate gene tested in |
| MT-CO3 | mitochondrially encoded cytochrome c oxidase III | Disease-causing germline mutation(s) in |
| MT-CYB | mitochondrially encoded cytochrome b | Disease-causing germline mutation(s) in |
| MT-ND1 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Disease-causing germline mutation(s) in |
| MT-ND2 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Disease-causing germline mutation(s) in |
| MT-ND4 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Disease-causing germline mutation(s) in |
| MT-ND4L | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Disease-causing germline mutation(s) in |
| MT-ND5 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Disease-causing germline mutation(s) in |
| MT-ND6 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Disease-causing germline mutation(s) in |
| NDUFS2 | NADH:ubiquinone oxidoreductase core subunit S2 | Disease-causing germline mutation(s) in |
| DNAJC30 | DnaJ heat shock protein family (Hsp40) member C30 | Disease-causing germline mutation(s) (loss of function) in |
临床表型 20
极常见 99–80%2
- 线粒体呼吸链缺陷 HP:0200125
- 视力缓慢下降 HP:0007924
常见 79–30%7
- 视力模糊 HP:0000622
- 中心暗点 HP:0000603
- 中央盲点 HP:0000576
- 视神经萎缩 HP:0000648
- 进行性视力下降 HP:0000529
- 视网膜毛细血管扩张 HP:0007763
- 视网膜血管迂曲 HP:0012841
偶见 29–5%11
- 视网膜电图异常 HP:0000512
- 视觉诱发电位异常 HP:0000649
- 心律失常 HP:0011675
- 共济失调 HP:0001251
- 色觉缺陷 HP:0000551
- 肌病 HP:0003198
- 周围神经病 HP:0009830
- 姿势性震颤 HP:0002174
- 对比敏感度降低 HP:0032036
- 视网膜神经纤维水肿 HP:0020120
- 心室预激 HP:0004309
近两年的全球研究 424L2
2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。
- 2026-08荟萃分析综述Diagnostic and Imaging Features of Leber Hereditary Optic Neuropathy: An Individual Participant Data Meta-Analysis
- 2026-07系统综述Systematic review of Leber's hereditary optic neuropathy - Clinical diagnosis, genetics overview and current concepts of treatment
- 2026-07病例报告When LHON Mimics Demyelination: Area Postrema Syndrome in Biallelic <i>DNAJC30</i> Variants
- 2026-07Archetypal Visual Field Analysis of Patients With Chronic Leber Hereditary Optic Neuropathy in Relation to Visual Recovery
- 2026-07Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy
- 2026-06Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy
- 2026-06Analysis of genetic risk factors for Leber hereditary optic neuropathy in the Polish population
- 2026-06综述Clinical development in primary mitochondrial diseases at a translational inflection point: Lessons, mechanisms, and emerging therapeutic strategies
- 2026-06Interpreting Relative Afferent Pupillary Defect in Leber Hereditary Optic Neuropathy Using Interocular Visual Acuity Difference
- 2026-06Generation and characterization of a human induced pluripotent stem cell line (SNUi001-A) harboring the MT-ND4 m.11778G>A mutation
- 2026-06Health-related quality of life and tobacco and alcohol consumption in Leber hereditary optic neuropathy in Sweden
- 2026-06开放获取Etiologic spectrum and predictors of visual acuity in non-glaucomatous optic atrophy
- 2026-06开放获取MOG Antibody-Associated Optic Neuritis Masquerading as Traumatic Optic Neuropathy Following Cranial Trauma: A Case Report
- 2026-06病例报告Late-Onset Leber Hereditary Optic Neuropathy: A Report of a Case and Review of the Literature
- 2026-06[The "Triple-hit" pathogenic mechanism of Leber hereditary optic neuropathy]
- 2026-06临床试验开放获取Evaluating a Coenzyme Q10-Based Food for Special Medical Purpose, for Mitochondrial Diseases Management: An Open-Label, Pilot Trial
- 2026-06综述开放获取Targeting Mitochondria in Aging-Related Diseases: Therapeutic Potential and Obstacles
- 2026-06综述Revisiting retinal and macular degeneration in the genomics era
- 2026-06综述开放获取Emerging therapeutic strategies for mitochondrial DNA-related diseases
- 2026-06综述开放获取Gene Therapy Tools for Diseases Caused by Mutations of the Mitochondrial Genome
境外已获批用于本病的药物 1L2
欧盟 1 项、美国 0 项。同一药物在两地各批一次的，会分别列出。
「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。
药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。
- Raxone欧盟2015-09-08idebenone该药获批用于遗传性视神经病变，本病属于其中官方记录
已获孤儿药资格、尚未获批的在研药物（8 项）
孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，不代表这个药已被证明有效，也不代表将来一定能上市。绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。
- Lumevoq欧盟2011-05-13adeno-associated viral vector containing the human NADH-dehydrogenase-4 gene该药获批用于遗传性视神经病变，本病属于其中Treatment of Leber's hereditary optic neuropathy官方记录
- idebenone美国2006-10-31该药获批用于遗传性视神经病变，本病属于其中Treatment of Leber's hereditary optic neuropathy.官方记录
- lenadogene nolparvovec美国2013-11-20Treatment of Leber Hereditary Optic Neuropathy官方记录
- elamipretide美国2018-04-02该药获批用于遗传性视神经病变，本病属于其中Treatment of Lebers Hereditary Optic Neuropathy官方记录
- Recombinant Human Adeno-Associated Virus Serotype 2 Containing Human M美国2020-09-22该药获批用于遗传性视神经病变，本病属于其中Treatment of Leber's Hereditary Optic Neuropathy官方记录
- [10-(4,5-dimethyl-3,6-dioxocyclohexa-1,4-dien-1-yl)decyl](triphenyl)ph美国2021-11-04Treatment of Leber Hereditary Optic Neuropathy官方记录
- recombinant adeno-associated virus serotype 2 containing human mitocho美国2022-01-13该药获批用于遗传性视神经病变，本病属于其中Treatment of Leber's Hereditary Optic Neuropathy (LHON)官方记录
- oral small-molecule modulator targeted NQO1美国2026-05-21treatment of Leber hereditary optic neuropathy官方记录
数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。
在中国开展的临床试验 5L2
按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。
登记为可入组 1
- 招募中NCT04912843Gene Therapy Clinical Trial for the Treatment Of Leber's HereDitary Optic Neuropathy中国研究中心 1 个：Beijing
其他状态的试验（4 项）
- 已完成NCT01267422Safety and Efficacy Study of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy (LHON)中国研究中心 1 个：Wuhan
- 状态未知NCT03153293A Single Intravitreal Injection of rAAV2-ND4 for the Treatment of Leber's Hereditary Optic Neuropathy中国研究中心 1 个：Wuhan
- 已终止NCT05820152Gene Therapy Clinical Trial for the Treatment of Leber's Hereditary Optic Neuropathy Associated With ND1 Mutations中国研究中心 3 个：Beijing、Guangzhou、Wenzhou
- 进行中·不再招募NCT07406854A Phase 3, Multicenter, Randomized, Double-Masked, Sham-Controlled Clinical Trial for Leber's Hereditary Optic Neuropathy (LHON) Associated With ND4 Mutation中国研究中心 1 个：Beijing
中国境外的在招试验 12L2
这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。
美国7法国4加拿大2比利时1巴西1德国1荷兰1西班牙1英国1奥地利1阿联酋1澳大利亚1
CT.gov 报告命中 12 项，此处取回并展示最近的 11 项。
- 尚未开始招募NCT06792500A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus)美国
- 尚未开始招募NCT07258667Pilot Study of the Efficacy of Nicotinamide (Vitamin B3) in Leber's Hereditary Optic Neuropathy法国
- 招募中NCT07303296Efficacy and Safety Study of Bilateral IVT Injection of GS010 at Two Dose Levels in LHON Patients法国
- 尚未开始招募NCT07075887Optic Nerve Head Evaluation Through Multimodal Blood Flow Analysis: a Prospective Observational, Multi-center Study
- 招募中NCT06891443Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)比利时、巴西、加拿大、法国、德国、荷兰、西班牙、英国 等 9 国
- 招募中NCT06682819Metabolomics Analysis According to the Retinal Nerve Fiber Layer in Patients With NOHL Mutations (MétabOCT)法国
- 招募中NCT03475173New Non-invasive Modalities for Assessing Retinal Structure and Function美国
- 招募中NCT03011541Stem Cell Ophthalmology Treatment Study II奥地利、阿联酋、美国
- 招募中NCT02435940Inherited Retinal Degenerative Disease Registry美国
- 招募中NCT01694940North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)加拿大、美国
- 招募中NCT01793168Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford澳大利亚、美国
外部标识与链接
OrphanetOMIM:308905OMIM:535000OMIM:619382MONDO:0010788GARD:6870ICD-10 H47.2ICD-11 8C73.YClinicalTrials.gov 检索
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）