Prior studies of SH3PXD2B showed that loss of function mutations are associated with a congenital form of glaucoma as part of Frank-Ter Haar syndrome, suggesting that we might find similar defects in a cohort of primary congenital glaucoma patients and possibly hypomorphic alleles in other forms of human glaucoma. This evidence concerns the gene SH3PXD2B and primary congenital glaucoma.