Fuchs Endothelial Corneal Dystrophy: Rethinking an Old Disease with Insights from the Laboratory and Clinical Practice

Fuchs endothelial corneal dystrophy (FECD), estimated to affect 4% of the US population [1], is the leading cause of endogenous corneal endothelial degeneration and the primary indication for keratoplasty worldwide [2]. FECD is a slowly progressive bilateral corneal disease that is characterized by abnormal corneal endothelial morphology, such as pleomorphism and polymegethism, decreased cell density, thickening of the Descemet membrane (DM), and formation of extracellular matrix (ECM) excrescences called guttae [3], which lead to derangements in endothelial cell function. Quality of vision is slowly compromised by corneal edema secondary to gradual failure of corneal endothelial pump action and guttae-induced visual disturbances such as decreased contrast sensitivity [4] and higher order aberrations [5]. Its pathogenesis is proposed to be an interaction between endogenous and exogenous factors [6]. The disease manifests in the early third to late fifth decade of life and has a female preponderance [7–9]. Since the first description of the disease by Ernest Fuchs more than 100 years ago [10], major advances in understanding the nature and pathogenesis of FECD have been made and are described in this chapter.