Corneal endothelium transcriptome profiling of patients 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. In this study, we used RNA-Seq to obtain the gene expression profile of corneal endothelium of 12 patients with FECD (8 with TCF4 expansion and 4 without it) and 6 control samples of donor corneal endothelium (without TCF4 expansion) obtained from the eye bank.