Primary Congenital Glaucoma 3A (CYP1B1)

Primary congenital glaucoma 3A is an autosomal recessive disorder associated with pathogenic variants in the gene CYP1B1. A higher prevalence of this disorder is noted in individuals from the Middle East. This disorder is the most common type of childhood glaucoma with onset before 5 years of age without other associated abnormalities. Some affected individuals, however, have juvenile or adult onset of primary open angle glaucoma. This disorder is characterized by increased intraocular pressure that damages the optic nerves resulting in reduction in peripheral vision that progresses to blindness. Life expectancy is normal. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):