Structural Assessment of<i>PITX2</i>,<i>FOXC1</i>,<i>CYP1B1</i>, and<i>GJA1</i>Genes in Patients with Axenfeld-Rieger Syndrome with Developmental Glaucoma

Abstract

Two new structural alterations in the FOXC1 gene and a polymorphism in the GJA1 gene were first described in Brazilian patients with AR and developmental glaucoma. A polymorphism in the GJA1 gene (Ala253Val), for the first time identified in association with AR, raises the possibility of its participation as a modifier gene.