Congenital Glaucoma
Primary congenital glaucoma (PCG) is evident either at birth or within the first few years of life. It is believed to be caused by dysplasia of the anterior chamber angle without other ocular or systemic abnormalities. In more than 10% of cases, PCG is inherited as an autosomal recessive trait associated with mutations in CYP1B1, located at 2p22; MYOC, at 1q25; and numerous other genes. Characteristic findings in newborns with PCG include the triad of epiphora, photophobia, and blepharospasm. External eye examination may reveal buphthalmos, with the cornea enlarging to more than 12 mm in diameter during the first year of life. (In full-term infants, the normal horizontal corneal diameter is 9.5–10.5 mm.) Corneal edema, present in 25% of affected infants at birth and in more than 60% by the sixth month of life, may range from mild haze to dense opacification of the corneal stroma because of elevated intraocular pressure. Tears in Descemet membrane (Haab striae) may occur acutely as a result of corneal stretching and are typically oriented horizontally or concentric to the limbus. For additional discussion, see BCSC Section 6, Pediatric Ophthalmology and Strabismus, and Section 10, Glaucoma.
Wiggs JL, Langgurth AM, Allen KF. Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis). Trans Am Ophthalmol Soc. 2014; 112(July):94–102.
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.