Reduced human and murine corneal thickness in an Axenfeld-Rieger syndrome subtype.

Purpose: Axenfeld-Rieger malformations of the anterior segment are clinically heterogeneous, and up to 50% of cases are attributable to PITX2 or FOXC1 mutation. In view of PITX2's contribution to corneal development and the altered CCT in some FOXC1-related cases, this study was undertaken to investigate whether a related phenotype is associated with the PITX2/Pitx2 mutation.

Methods: Central corneal thickness (CCT) was measured in patients and mice with PITX2/Pitx2 mutations.