Abstract

Study Design: Cross sectional observational study
Purpose: We aimed to delineate the glaucoma severity and long-term outcomes with therapy of glaucoma in Axenfeld-Rieger malformation (ARM) patients carrying FOXC1 and PITX2 variants
Methods: Clinical exome sequencing was carried out in 28 unrelated ARM patients with glaucoma to look for FOXC1 or PITX2 variants. Outcomes of therapy was assessed at 5 years following therapy for stabilization of the disease
Results: We found pathogenic variants in FOXC1 and PITX2 in 14 and 4 probands respectively, half of which were novel. Microcornea was present in all patients with PITX2 variants and in only 2 out of 14 with FOXC1 variant (p<0.001). Patients with FOXC1 variants had a more severe form of glaucoma presenting at an earlier age. Stabilization of the disease after filtering surgery was similar in both
Conclusions: FOXC1 is associated with more severe glaucoma, though long-term stabilization with therapy is similar irrespective of genotype