Arg124Cys Mutation of the TGFBI Gene in 2 Chinese Families With Thiel-Behnke Corneal Dystrophy

Abstract

The Arg124Cys mutation was associated with TBCD in 2 Chinese families. This mutation in the TGFBI gene may induce different phenotypes of corneal dystrophy. Clinical Relevance Thiel-Behnke corneal dystrophy may be caused by an Arg124Cys mutation of the TGFBI gene.