Contributor: Gordon K. Klintworth
Primary infantile glaucoma (primary developmental glaucoma, primary congenital glaucoma, OMIM #231300) is a type of congenital glaucoma [glaucoma - congenital] characterized by elevated intraocular pressure and a develomental defect in the anterior chamber angle. Eventually this leads to photophobia, epiphora, globe enlargement, corneal edema [edema - cornea], corneal opacification, breaks in Descemet membrane, and Haab striae. The anterior chamber angle is open and appears normal, but an increased resistance to the outflow of the aqueous humor is present within the vicinity of Schlemm canal. A defect in the trabecular meshwork with the iris inserting into the meshwork instead of the scleral spur is often present. The anterior chamber is deeper than normal. There are no other apparent associated ocular abnormalities. A familial history is common, but the majority of cases are sporadic. Most cases of primary congenital glaucoma occur in boys (65%) and an X-linked recessive mode of inheritance is common;10% exhibit an autosomal recessive inheritance. However, most patients with primary congenital glaucoma are believed to have a polygenic inheritance with a variable penetrance in different families. Homozygous mutations in the CYP1B1 gene account for cases of primary congenital glaucoma at the GLC3A locus. At least two other loci have been mapped in primary congenital glaucoma (GLC3B and GLC3C).