Figure 1.

Clinical features of Axenfeld-Rieger Syndrome in a patient with a PITX2 mutation. DNA sequencing of the PITX2 gene in a female with Axenfeld-Rieger syndrome identified a novel heterozygous mutation of a canonical splicing sequence within intron 3, IVS3-1delG. This patient had classic features of Axenfeld-Rieger syndrome including bilateral iris hypoplasia (panel A and B); posterior embryotoxon (panel A and B indicated with black arrows); polycoria (panel A and B indicated with white arrowheads); and corectopia (panel B indicated with an asterisk). This patient also had hypodontia and microdontia (panel C).