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 286L2
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。
- 2026-08Choroidal Caverns in Choroideremia
- 2026-07Classification of Inherited Retinal Diseases Using Artificial Intelligence Models for Fundus Autofluorescence and Ultrawide Retinal Images
- 2026-07Beyond innovation: why rare disease gene therapy needs a reset
- 2026-07Correction: Raeker et al. Reduced Retinal Pigment Epithelial Autophagy Due to Loss of Rab12 Prenylation in a Human iPSC-RPE Model of Choroideremia. <i>Cells</i> 2024, <i>13</i>, 1068
- 2026-06Atypical choroideremia with distinctive fundus manifestations: a case report and literature review
- 2026-06Gene therapy in patients with choroideremia: a meta-analysis of clinical trials
- 2026-06开放获取Engineered tRNA reduces vision loss in a mouse model of Leber congenital amaurosis
- 2026-06病例报告开放获取Refractory nail lichen planus treated successfully with the Janus kinase 1 inhibitor abrocitinib: A case report
- 2026-06开放获取Directional Analysis of Residual RPE Area Loss in the Natural History of Choroideremia
- 2026-06开放获取Comparative Analysis of Retinal Structure and Function in Female Carriers of Choroideremia and X-Linked Retinitis Pigmentosa
- 2026-05开放获取Optimising POU3F4 variant interpretation through gene-specific evidence in X-linked hearing loss
- 2026-05综述开放获取The impact of X chromosome inactivation on human health
- 2026-05mRNA delivery to the retina restores REP1 function in choroideremia
- 2026-05综述开放获取Precision Medicine in Inherited Retinal Disease: Advances, Challenges, and Future Directions
- 2026-05综述开放获取Quality of Life in Patients with Posterior Segment Eye Diseases
- 2026-05病例报告Anatomic and Functional Recovery Following Surgical Repair of Full-Thickness Macular Hole in Choroideremia
- 2026-05开放获取Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian Population
- 2026-05开放获取Efficacy and safety of AAV-mediated gene therapy for choroideremia: a systematic review and meta-analysis
- 2026-05开放获取Disease and Participant-Related Correlates of Genetic Testing Completion for Hereditary Eye Disorders in a Cohort of over 1400 Patients
- 2026-05综述Modalities of vision restoration in optic neuropathies and retinal disease
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。
已获孤儿药资格、尚未获批的在研药物（5 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。
- 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。
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）