Abstract
Presentation Description :
Fuchs endothelial corneal dystrophy (FECD) is a common, degenerative disease of the corneal endothelial cell monolayer. There are no medical therapies to halt disease progression, thus surgical transplantation of the cornea is the only viable treatment. The advent of in vitro and in vivo models of FECD has helped researchers gain a better understanding of the disease pathogenesis. Cell-based approaches to study FECD has helped improve our molecular understanding of the disease, and animal models provide an opportunity to investigate the role of genetic variants in disease pathogenesis as well as an avenue to test novel therapeutic approaches. This presentation will review some of the cell-based and animal models that are currently being used to understand the pathophysiology of FECD. Additionally, an overview on the progress towards developing a mouse knock-in model of the most predictive genetic anomaly identified for FECD, the CTG trinucleotide repeat expansion in the transcription factor 4 (TCF4) gene, will be discussed.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.