施奈德结晶状角膜营养不良的分子基础与临床研究进展

Research progress of Schnyder crystalline corneal dystrophy in molecular basis and clinic

施奈德结晶状角膜营养不良(SCCD)是一种稀有的常染色体显性遗传病,其发病部位在眼角膜,伴有结晶状沉淀,双眼发病,家族遗传性,男女患病几率均等。临床研究揭示角膜结晶状混浊化成因是胆固醇、磷脂等脂质在角膜上皮下和基质中异常积累。SCCD的发生与UBIAD1基因突变后脂质代谢异常有关,但是致病的分子机制未知。本文综述了SCCD的发现发展历史、发病分子基础与临床研究,为SCCD的诊疗以及致病分子机制的阐明提供参考。

·Schnyder crystalline corneal dystrophy(SCCD)is a rare autosomal dominant genetic disorder that occurs in bilateral corneas and is associated with crystalline opacification.SCCD is an inherited eye disease and distributes equally in both man and woman.Clinical research revealed that corneal crystalline turbidity resulted from the abnormal accumulation of cholesterol,phospholipid and other lipids in the corneal epithelium and stroma.The occurrence of SCCD is related to abnormal lipid metabolism caused by UBIAD1 mutation,but the molecular basis of the disease is unknown.This paper reviews the discovery and developmental history of SCCD,the molecular basis of SCCD and its clinical research,which provides guidance for the diagnosis and treatment of SCCD and the elucidation of pathogenic molecular mechanism.