无脉络膜症
Choroideremia
定义 英文原文（暂无中文）
Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.
别名
脉络膜毯层营养不良
基本事实
- 遗传方式
- X 连锁隐性
- 发病年龄
- 青少年期、成年期、儿童期
- 患病率
- 1-9 / 100 000（Europe）
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CHM | CHM Rab escort protein | Disease-causing germline mutation(s) in |
临床表型 15
极常见 99–80%5
- 视网膜电图异常 HP:0000512
- 视网膜色素异常 HP:0007703
- 近视 HP:0000545
- 夜盲症 HP:0000662
- 视觉障碍 HP:0000505
常见 79–30%4
- 无脉络膜症 HP:0001139
- 周边性视野狭窄 HP:0001133
- 周边视野缺失 HP:0007994
- 进行性视力下降 HP:0000529
偶见 29–5%6
- 眼底自发荧光成像异常 HP:0030602
- 脉络膜视网膜萎缩 HP:0000533
- 脉络膜新生血管 HP:0011506
- 色觉缺陷 HP:0000551
- 黄斑水肿 HP:0040049
- 后囊下白内障 HP:0007787
近两年的全球研究 300L2
2024/10 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。
- 2026-09Somatic mosaicism and skewed X-chromosome inactivation associated with male-pattern choroideremia phenotype in a female patient
- 2026-09开放获取Widening the Spectrum of Disease Expression due to Heterozygous Variants in EFEMP1
- 2026-09开放获取A national cross-sectional study of patients with inherited retinal disease in China
- 2026-09开放获取Enhanced Visualization of Choroidal Defects in Focal Choroidal Excavation With Near-Infrared Autofluorescence: Multimodal Imaging Study
- 2026-09Choroideremia Carrier with Geographic Pattern and Peripapillary Involvement
- 2026-09开放获取Aqueous humour extracellular vesicle membrane protein profiling reveals pathological features of refractory macular edema
- 2026-08The therapeutic mechanism-trajectories principle (TMTP): A framework for informational architecture in chronic disease self-management
- 2026-08病例报告Isolated Nail Lichen Planus With Extensive Involvement: The Importance of Clinicopathologic Correlation and Response to Hydroxychloroquine
- 2026-08开放获取Association of <i>ABHD12</i> Variants with the Spectrum of PHARC Syndrome Phenotypes
- 2026-08综述开放获取Full-Field Stimulus Threshold: A Key Functional Outcome Measure in Retinal Diseases and Clinical Trials
- 2026-08开放获取Deep Learning for Diagnosis of Choroideremia and <i>USH2A</i>-Associated Rod-Cone Dystrophy Using Macular OCT Volumes
- 2026-08Perivascular Astrocytic Gliosis Induced by Retinal Gene Therapy
- 2026-08开放获取Ability of Large Language Models to Answer Patients' Questions and Generate Educational Materials for Uncommon Retinal Conditions
- 2026-08A 48-Month, Prospective, Multicenter, Natural History Study of Choroideremia
- 2026-08开放获取A 48-Month, Prospective, Multicenter, Natural History Study of Choroideremia
- 2026-08综述开放获取Intracellular Retinoid-Binding Proteins (CRBP, CRALBP, CRABP) as Emerging Drug Targets in Retinal Disease
- 2026-08Choroidal Caverns in Choroideremia
- 2026-08开放获取Swept-Source Wide-Field OCT and OCTA (24 × 20 mm and 26 × 21 mm) in Inherited Retinal Dystrophies: First Clinical Experience with Two Novel Devices
- 2026-08开放获取Did you see the sound? A Bayesian assessment on cross-modal perception in low vision
- 2026-08临床试验开放获取Use of a Retinal Phantom to Facilitate Adaptive Optics Scanning Light Ophthalmoscopy Imaging in a Multicenter Clinical Trial
境外已获批用于本病的药物 0L2
欧盟与美国均未检索到已获批用于本病的药物。
尚未获批的在研药物（5 项）
这些药已被欧盟或美国的监管机构认定为罕见病用药（英文 orphan drug designation，中文行业里通称「孤儿药资格」——「孤儿」说的是这类药市场太小、没有厂商愿意认领，不是在说病人）。但这只是一种监管身份：意味着监管机构给予研发上的激励，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。
- adeno-associated viral vector serotype 2 containing the human CHM gene欧盟2014-06-04Treatment of choroideraemia官方记录
- adeno-associated viral vector serotype 5 containing the human CHM gene欧盟2015-04-24Treatment of choroideraemia官方记录
- aadeno-associated viral vector, serotype 2, containing the human choro美国2013-09-12Treatment of choroideremia due to mutations in the human choroideremia gene (CHM)官方记录
- adeno-associated viral vector serotype 2 containing the human Rab esco美国2014-11-05Treatment of choroideremia官方记录
- adeno-associated virus (AAV2) capsid variant carrying a transgene enco美国2017-10-12Treatment of choroideremia (CHM)官方记录
数据来自欧洲药品管理局（EMA）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。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。
中国境外的在招试验 4L2
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3比利时1
共 4 项。
- 招募中NCT06375239Observational Study to Assess Endpoint Operational Feasibility & Measurement Properties in Patients with Retinal Degeneration美国
- 招募中NCT07377162HYPER MIND - Hyperoxia Effects on Cerebral Hemodynamics比利时
- 招募中NCT02435940Inherited Retinal Degenerative Disease Registry美国
- 招募中NCT01866371High Resolution Retinal Imaging美国
外部标识与链接
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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）