2020–2021 BCSC Basic and Clinical Science Course™
Chapter 1: Introduction to Glaucoma: Terminology, Epidemiology, and Genetics
Primary Congenital Glaucoma
Primary congenital glaucoma (PCG) is rare, but it represents the most common form of childhood glaucoma, with an incidence ranging from 1:1250 to 1:10,000 depending on the population studied. Although most cases are sporadic, a large proportion is inherited. Disease-causing mutations have been identified in 4 genes. Recessive mutations in the gene encoding cytochrome P-450 1B1 (CYP1B1) are the most common cause of PCG identified to date. Cytochrome P-450 1B1 appears to be required for trabecular meshwork development and function. Recessive mutations in latent transforming growth factor β-binding protein 2 (LTBP2) also cause PCG. The gene encodes a protein associated with microfibrils, cell adhesion, and maintenance of the extracellular matrix. Other ophthalmic diseases associated with LTBP2 mutations include Weill-Marchesani syndrome, microspherophakia, and ectopia lentis. Disease-causing mutations in tunica interna endothelial cell kinase (TEK, also known as TIE2) and angiopoietin 1 (ANGPT1) genes result in maldevelopment of the Schlemm canal in mouse models and are inherited as a dominant trait with variable expressivity in some patients with PCG.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.