Trinucleotide Repeat Expansion in the<i>TCF4</i>Gene in Fuchs' Endothelial Corneal Dystrophy in Japanese

Abstract

These findings show for the first time in a Japanese population the association of the TNR expansion in TCF4 with FECD. In contrast to Caucasian cohorts in whom the TNR expansion is present in most patients with FECD, a CTG expansion is present in a minority of Japanese subjects, indicating other genetic variants as common causes of phenotypically identical disease in this population.