Schepens Eye Research Institute, Boston, MA 02114, USA.
Ocul Surf. 2010 Oct;8(4):173-84. doi: 10.1016/s1542-0124(12)70232-x.
Fuchs endothelial corneal dystrophy (FECD) is characterized by progressive loss of corneal endothelial cells, thickening of Descement's membrane and deposition of extracellular matrix in the form of guttae. When the number of endothelial cells becomes critically low, the cornea swells and causes loss of vision. The clinical course of FECD usually spans 10-20 years. Corneal transplantation is currently the only modality used to restore vision. Over the last several decades genetic studies have detected several genes, as well as areas of chromosomal loci associated with the disease. Proteomic studies have given rise to several hypotheses regarding the pathogenesis of FECD. This review expands upon the recent findings from proteomic and genetic studies and builds upon recent advances in understanding the causes of this common corneal disorder.
Fuchs 内皮角膜营养不良 (FECD) 的特征是角膜内皮细胞进行性丧失、Descement 膜变厚和以胶滴形式沉积细胞外基质。当内皮细胞数量减少到临界值以下时，角膜会肿胀并导致视力丧失。FECD 的临床病程通常跨越 10-20 年。目前，角膜移植是恢复视力的唯一方法。在过去几十年中，遗传研究已经发现了几个与该疾病相关的基因以及染色体基因座区域。蛋白质组学研究提出了几种关于 FECD 发病机制的假说。本综述扩展了蛋白质组学和遗传研究的最新发现，并建立在理解这种常见角膜疾病病因的最新进展之上。
