角膜缘干细胞缺乏
Limbal stem cell deficiency
定义 英文原文（暂无中文）
A rare corneal disorder characterized by dysfunction and/or insufficient quantity of corneal limbal stem cells, leading to impaired self-renewal of the corneal epithelium and resulting in epithelial breakdown, corneal conjunctivalization and neovascularization, chronic inflammation, persistent epithelial defects, and scarring. Patients usually present with ocular redness, decreased vision, photophobia, foreign body sensation, tearing, and pain. The condition may be genetic, idiopathic, or acquired (in the context of inflammation, infection, trauma, or ocular surface tumors).
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 青少年期、成年期、儿童期、老年期、婴儿期
- 患病率
- 1-5 / 10 000（Europe）
临床表型 15
常见 79–30%8
- 眼睑痉挛 HP:0000643
- 结膜充血 HP:0030953
- 角膜反射减退 HP:0008000
- 泪液分泌增加 HP:0009926
- 泪液分泌异常 HP:0000632
- 眼痛 HP:0200026
- 畏光 HP:0000613
- 视力下降 HP:0007663
偶见 29–5%5
- 角膜新生血管 HP:0011496
- 角膜瘢痕 HP:0000559
- 角膜广泛性混浊 HP:0011494
- 角膜炎 HP:0000491
- 角膜上皮混浊 HP:0007727
罕见 <4–1%2
- 角膜涡状营养不良 HP:0500008
- 角膜穿孔 HP:0100583
近两年的全球研究 664L2
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综述Refining How We Diagnose and Classify Limbal Stem Cell deficiency
- 2026-07Enhancing the Outgrowth of Oral Mucosal Cell Sheets for Cultivated Rabbit Oral Mucosal Epithelial Transplantation with ROCK Inhibitor
- 2026-07综述Reconsidering pterygium in the context of focal limbal stem cell dysfunction
- 2026-07Clinical Outcomes of 50% Autologous Serum Eye Drops for Contact Lens-Induced Limbal Stem Cell Deficiency: A Staging-Based Evaluation
- 2026-07Combined Limbal Epithelial and Stromal Cell Transplant for Aniridia-Related Keratopathy: A Nonrandomized Clinical Trial
- 2026-07病例报告Allogeneic simple limbal epithelial transplantation (SLET) in aniridia-associated keratopathy
- 2026-07综述Shaping the future of limbal stem cell therapy: advances in substrates, techniques, and science for cultivated autologous and allogeneic limbal-epithelial transplantation
- 2026-07A novel rat model of neurotrophic keratopathy complicated with limbal stem cell deficiency induced by trigeminal ophthalmic branch injury
- 2026-07Comments on Xu et al. (2026) "Development of a microscopy-based diagnostic test for alkali injury-induced limbal stem cell deficiency through autofluorescence multispectral imaging" (Exp. Eye Res. 264:110829)
- 2026-07A Case Series of Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome and Surgical Outcomes
- 2026-07综述Experimental corneal alkali burn models: Methodological standards, biological outcomes, and translational gaps
- 2026-07系统综述Therapeutic Potential of Mesenchymal Stem Cell-Derived Exosomes in Ocular Surface Disorders
- 2026-07In Vivo Confocal Microscopy Revealed Alteration of Limbal Stem Cells and Sub-Basal Nerve Plexus in Allergic and Dry Eye-Related Ocular Surface Diseases
- 2026-07病例报告开放获取Topical Mitomycin C Chemotherapy After Surgical Resection of Conjunctival Amelanotic Melanoma in a Dog
- 2026-06Gellan Gum Fluid Gel System for Controlled-Delivery of Cytokine-Licensed MSC-EVs to Enhance Corneal Repair in Limbal Stem Cell Deficiency
- 2026-06病例报告开放获取Type I to type II Boston keratoprosthesis exchange: a report of two patients
- 2026-06Decellularized Descemet Membrane Anterior Keratoplasty as a Basement Membrane Scaffold for Ocular Surface Reconstruction: Two Cases of Limbal Stem Cell Deficiency
- 2026-06综述Current Practices, Evolving Techniques, and Immunologic Challenges in Living and Deceased Donor Limbal Stem Cell Transplantation
- 2026-06综述Induced Pluripotent Stem Cells in Corneal Regeneration: Biological Progress, Translational Barriers and Clinical Outlook
- 2026-06Results of adjunctive homogenate amniotic membrane eye drops in the management of refractory ocular surface disease with dry eye manifestations
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。
- Holoclar欧盟2015-02-17ex vivo expanded autologous human corneal epithelial cells containing stem cells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。
- ex-vivo-expanded autologous human corneal epithelium containing stem c欧盟2013-07-17Treatment of limbal stem cell deficiency官方记录
- cultured allogeneic corneal limbal stem cells欧盟2014-10-15Treatment of limbal stem cell deficiency官方记录
- allogeneic ABCB5-positive limbal stem cells欧盟2018-12-14Treatment of limbal stem cell deficiency官方记录
- spironolactone欧盟2026-02-23Treatment of limbal stem cell deficiency官方记录
- Autologous or allogeneic limbal epithelial stem cells expanded ex vivo美国2005-07-14Treatment of ocular surface diseases that are characterized by total limbal stem cell deficiency官方记录
- Bio-engineered oral mucosal tissue美国2006-04-27For use as a graft for restoring a cornea-like epithelial phenotype to substitute for the normal corneal epithelium that is lost in patients due to total limbal stem cell deficienc官方记录
- ex vivo expanded autologous human corneal epithelial cells containing 美国2018-04-26Treatment of limbal stem cell deficiency官方记录
- allogeneic ABCB5-positive limbal stem cells美国2019-03-28Treatment of limbal stem cell deficiency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 2L2
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。
当前没有检索到登记为可入组的试验。
其他状态的试验（2 项）
- 状态未知NCT03217487Corneal Epithelial Autograft for LSCD中国研究中心 1 个：Guanzhou
- 已完成NCT03217435Corneal Epithelial Allograft From Living-related Donor for LSCD中国研究中心 1 个：Guangzhou
中国境外的在招试验 13L2
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4法国3意大利1西班牙1中国台湾1韩国1加拿大1
共 13 项。
- 尚未开始招募NCT07694817Clinical Predictors of Visual Outcome in Patients Affected With Ocular Surface Diseases意大利
- 招募中NCT07636590Multi-Center, Prospective, Non-Interventional Study in Subjects With Limbal Stem Cell Deficiency美国
- 尚未开始招募NCT03884569Cultivated Limbal Epithelial Transplantation (CLET) for Limbal Stem Cell Deficiency (LSCD)西班牙
- 招募中NCT06919081Efficacy of Topical Mesenchymal Stromal Cell Secretome for Ocular Surface Disease美国
- 招募中NCT07119580Association Between Limbal Function and Tear Proteomics in Chronic Ocular Diseases: Focusing on Glaucoma中国台湾
- 尚未开始招募NCT06700655A Clinical Study on Co-transplantation of Autologous Limbal Stem Cells and Corneal Stromal Stem Cells to Repair Corneal Injury
- 招募中NCT06265298Implementation of a Protocol for the Transdifferentiation of Buccal Mucosal Epithelium Into Corneal Epithelium法国
- 招募中NCT06452316Study to Evaluate the Safety and Efficacy of CSB-001 Ophthalmic Solution 0.1% in Subjects With Limbal Stem Cell Deficiency美国
- 招募中NCT03949881Cultured Autologous Oral Mucosa Epithelial Sheet for the Treatment of Bilateral Limbal Stem Cell Deficiency法国
- 招募中NCT02886611Limbal Stem Cell Deficiency of Genetic Origin: Genotype-phenotype Correlation法国
- 可获取（拓展性用药）NCT02149732Clinical Trial on the Effect of Autologous Oral Mucosal Epithelial Sheet Transplantation韩国
- 招募中NCT01756365Autologous Cultured Corneal Epithelium (CECA) for the Treatment of Limbal Stem Cell Deficiency加拿大
- 可获取（拓展性用药）NCT07422389BRM421 Ophthalmic Solution in Patients With Limbal Stem Cell Deficiency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）