The genetics of Fuchs' corneal dystrophy.

摘要: Fuchs' corneal dystrophy (FCD) is a common late-onset genetic disorder of the endothelium. It causes loss endothelial cell density and excrescences in Descemet membrane, eventually progressing to edema, necessitating transplantation. The basis FCD complex heterogeneous, demonstrating variable expressivity incomplete penetrance. To date, three causal genes, ZEB1, SLC4A11 LOXHD1, have been identified, representing small proportion total load FCD. An additional four loci localized, including region on chromosome 18 that potentially responsible for large all cases. elucidation genes underlying these will begin clarify pathogenesis pave way emergence nonsurgical treatments.