施奈德角膜营养不良致病基因的研究进展
摘要
施奈德角膜营养不良(SCD)是一种少见的常染色体显性遗传病,具有高度外显性。其临床特点是角膜上皮和基质内出现异常胆固醇和磷脂质沉积引起进行性角膜混浊,发病机制可能与UBIAD1基因突变导致的脂质代谢缺陷有关,但确切机制未明。本文就SCD的相关基础研究的进展及临床表现予以综述。
出处
《中国眼耳鼻喉科杂志》
2012年第5期336-338,共3页
Chinese Journal of Ophthalmology and Otorhinolaryngology
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