Primary Congenital Glaucoma

Primary congenital glaucoma (PCG) can be a devastating condition that presents in early childhood. It is classified based on the age of presentation: neonatal or newborn onset (birth to 1 month), infantile (>1 to 24 months), and late-onset or recognition (>2 years). To date, pathogenic variants in three genes, CYP1B1, LTBP2, and TEK, have been described for PCG. The characteristic findings for this condition include elevated intraocular pressure, buphthalmos, breaks in Descemet’s membrane, and axial elongation in the absence of secondary causes. This chapter reviews PCG with regard to its current genetic and clinical understanding, new diagnostic and imaging technologies, as well as top considerations for primary and subsequent surgical treatments.