Given the role of SH3PXD2B in syndromic congentital glaucoma associated with Frank-Ter Haar syndrome and the early onset glaucoma phenotype in the Sh3pxd2b mutant mice, we also tested a cohort of primary congenital glaucoma patients for disease-causing mutations in SH3PXD2B. We similarly tested a cohort of adult-onset primary open angle glaucoma (POAG) patients to determine if variants in SH3PXD2B have a role in the pathogenesis of this more common form of glaucoma. This evidence concerns the gene SH3PXD2B and Dermato-cardio-skeletal syndrome, Borrone type.