title: The genetics of Fuchs' corneal dystrophy.
abstract: Fuchs' corneal dystrophy (FCD) is a common late-onset genetic disorder of the corneal endothelium. It causes loss of endothelial cell density and excrescences in the Descemet membrane, eventually progressing to corneal edema, necessitating corneal transplantation. The genetic basis of FCD is complex and heterogeneous, demonstrating variable expressivity and incomplete penetrance. To date, three causal genes,ZEB1,SLC4A11andLOXHD1, have been identified, representing a small proportion of the total genetic load of FCD. An additional four loci have been localized, including a region on chromosome 18 that is potentially responsible for a large proportion of all FCD cases. The elucidation of the causal genes underlying these loci will begin to clarify the pathogenesis of FCD and pave the way for the emergence of nonsurgical treatments.
authors.affiliation: The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Benjamin W
authors.initials: BW
authors.lastname: Iliff
authors.forename: S Amer
authors.initials: SA
authors.lastname: Riazuddin
authors.forename: John D
authors.initials: JD
authors.lastname: Gottsch
keywords: Descemet membrane; FCD; Fuchs′ corneal dystrophy; cornea guttata; corneal endothelium; epithelial–mesenchymal transition; guttae; oxidative stress; unfolded protein