Transcriptome profiling of the corneal endothelium of patient with Fuchs endothelial corneal dystrophy

At present, there is no etiotropic treatment of Fuchs endothelial corneal dystrophy (FECD). Corneal transplantation is the only option for patients with advanced FECD. Recently the expansion of CTG18.1 trinucleotide repeat in TCF4 gene was associated with the development of FECD. However, the mechanism of disease pathogenesis has not been elucidated yet. Transcriptome profiling of corneal endothelium from patients with FECD may help identify the metabolic and signaling pathways involved in the pathological process and provide a basis for the development of specific non-surgical therapy. This project continues application of RNA-Seq to obtain the gene expression profile of corneal endothelium. Here we added one patient with FECD without CTG18.1 trinucleotide repeat expansion in TCF4.