Corneal dystrophies
Corneal dystrophies
复制标题
DOI：
10.1038/s41572-020-0178-9
复制
发表时间：
2020-06-11
影响因子：
81.5
通讯作者：
Mehta, Jodhbir S.
中科院分区：
文献类型：
--
作者：
Soh, Yu Qiang;Kocaba, Viridiana;Mehta, Jodhbir S.
角膜营养不良是影响角膜任何部分的双侧进行性遗传性疾病。角膜营养不良是一种遗传性疾病，可影响角膜的任何一层，通常是进行性的，双侧的，没有全身性的影响。角膜营养不良是一种遗传性疾病，它是一种慢性疾病，通常是一种慢性疾病，通常是一种慢性疾病。2015年角膜营养不良国际分类将角膜营养不良分为四类：上皮和上皮下营养不良、上皮-基质TGF β 1营养不良、基质营养不良和内皮营养不良。尽管一些角膜营养不良可能在患者的一生中导致很少或轻微的症状和发病率，但其他角膜营养不良可能进展并最终导致需要医疗或手术干预的实质性视觉和眼部障碍。角膜移植，无论是与全层或部分厚度的供体组织，可能是指晚期角膜营养不良的患者。虽然角膜移植技术在过去二十年中有了很大的改进，但这些手术仍然与术后疾病复发、移植失败和其他可能导致失明的并发症的风险有关。此外，全球尸体角膜移植组织的短缺严重限制了世界某些地区角膜移植的可及性。基因治疗、再生治疗和细胞增强治疗的持续进展可能最终导致开发用于角膜营养不良的替代性、新颖的治疗方法，这可能实质上改善患有这些疾病的患者的生活质量。
Corneal dystrophies are bilateral, progressive inherited disorders affecting any part of the cornea. In this Primer, the authors review the different types of corneal dystrophy, their epidemiology, diagnosis and treatment, and discuss novel treatments that are in development.Corneal dystrophies are broadly defined as inherited disorders that affect any layer of the cornea and are usually progressive, bilateral conditions that do not have systemic effects. The 2015 International Classification of Corneal Dystrophies classifies corneal dystrophies into four classes: epithelial and subepithelial dystrophies, epithelial-stromalTGFBIdystrophies, stromal dystrophies and endothelial dystrophies. Whereas some corneal dystrophies may result in few or mild symptoms and morbidity throughout a patient's lifetime, others may progress and eventually result in substantial visual and ocular disturbances that require medical or surgical intervention. Corneal transplantation, either with full-thickness or partial-thickness donor tissue, may be indicated for patients with advanced corneal dystrophies. Although corneal transplantation techniques have improved considerably over the past two decades, these surgeries are still associated with postoperative risks of disease recurrence, graft failure and other complications that may result in blindness. In addition, a global shortage of cadaveric corneal graft tissue critically limits accessibility to corneal transplantation in some parts of the world. Ongoing advances in gene therapy, regenerative therapy and cell augmentation therapy may eventually result in the development of alternative, novel treatments for corneal dystrophies, which may substantially improve the quality of life of patients with these disorders.