Association and Familial Segregation of CTG18.1 Trinucleotide Repeat Expansion of<i>TCF4</i>Gene in Fuchs' Endothelial Corneal Dystrophy

Abstract

We report, to our knowledge, the first independent replication of the expanded CTG 18.1 allele conferring significant risk for FECD (>30-fold increase). The expanded allele cosegregates with the trait with complete penetrance in a majority of families, but we also document cases of incomplete penetrance.