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Fuchs endothelial corneal dystrophy (FECD) is a common corneal endotheliopathy with a complex and heterogeneous genetic background. Different variants in the  TCF4  gene have been strongly associated with the development of FECD.  TCF4  encodes the E2-2 transcription factor but the link between the strong susceptibility locus and disease mechanism remains elusive. Here, we confirm a strong positive association between  TCF4  single nucleotide polymorphism rs613872 and FECD in Polish patients (OR = 12.95, 95% CI: 8.63–19.42,  χ   2  = 189.5,  p  < 0.0001). We show that  TCF4  expression at the mRNA level in corneal endothelium ( n  = 63) does not differ significantly between individuals with a particular  TCF4  genotype. It is also not altered in FECD patients as compared to control samples. The data suggest that changes in the transcript level containing constitutive  TCF4  exon encoding the amino-terminal part of the protein seem not to contribute to disease pathogenesis. However, considering the strong association of  TCF4  allelic variants with FECD, genotyping of  TCF4  risk alleles may be important in the clinical practice.

Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal EndothelialTCF4mRNA Level