A Novel PITX2 Mutation and a Polymorphism in a 5-Generation Family with Axenfeld-Rieger Anomaly and Coexisting Fuchs' Endothelial Dystrophy

This gene analysis revealed a novel PITX2 mutation and a polymorphism in a family with ARAS. Whether FED, also manifested in the severely affected individuals, is due to a different but cosegregating gene is to be determined.