[关键词]
[摘要]
斑状角膜营养不良(macular corneal dystrophy，MCD)是一种常染色体隐性遗传病，是由角膜基质层营养不良导致的进行性视野缺损。CHST 6基因的突变被认为是其主要致病因素。一般来说，全厚度穿透性角膜移植术可作为提高患者视力的一种标准治疗手段。然而一些其它的外科干预措施如深板层角膜移植术(deep anterior lamellar keratoplasty，DALK)和准分子激光治疗性角膜切除术(phototherapeutic keratectomy，PTK)在治疗MCD中也显示了其有效性。一些新的治疗技术如基因靶向疗法和酶替代疗法，也正在被积极地研究。本文就其发病机制、遗传基础、临床表现、治疗及预后作一简要综述。
[Key word]
[Abstract]
Macular corneal dystrophy(MCD)refers to corneal stromal dystrophy, which can cause progressive visual field defects. MCD belongs to autosomal recessive disease. Mutation of CHST 6 gene is considered to be a pathogenic factor. In general, full-thickness penetrating keratoplasty has become a standard treatment for improving vision. Now more advanced surgical interventions such as deep anterior lamellar keratoplasty(DALK)and phototherapeutic keratectomy(PTK)have also been shown to be important in the treatment of MCD. Some new technologies, such as gene targeting therapy and enzyme replacement therapy, are also being studied as potential permanent solutions for MCD. The pathogenesis, genetic basis, clinical manifestations, treatment and prognosis of this disease are reviewed in this paper.
[中图分类号]
[基金项目]
国家自然科学基金资助(No.81400372,81660158); 江西省自然科学基金重大项目(No.20161ACB21017); 江西省自然科学基金(No.20151BAB215016); 江西省重点研发项目(No.20151BBG70223)
