Glaucoma is a progressive optic neuropathy characterized by a degeneration of the optic nerve, which is usually associated with elevated intraocular pressure. The increase in intraocular pressure is probably caused by a reduction in outflow of aqueous humor through the trabecular outflow pathways. The degeneration of the optic nerve is the result of the loss of individual retinal ganglion cells, where the ganglion cells die by an apoptotic mechanism. The prevalence of primary congenital glaucoma varies across ethnic communities and geographical boundaries, ranging from 1 in 10,000-20,000 in the western populations to 1 in 2,500 and 1 in 1,250 in the Saudi Arabian and Gypsy populations of Slovakia, respectively.

More than 55 different mutations in the coding region of this gene have been identified in CYP1B1 to be causal for primary congenital glaucoma in different ethnic backgrounds and populations highlighting the allelic heterogeneity of the condition. Molecular modeling experiments suggest that mutations observed in primary congenital glaucoma patients interfere with the integrity of the CYP1B1 molecule as well as its ability to adopt a normal conformation and bind heme.