OP7.1 | Congenital Glaucoma — Summary & Reflection

KEY TAKEAWAYS

Primary congenital glaucoma (PCG) results from trabeculodysgenesis — an embryological arrest of angle maturation leading to obstructed aqueous outflow and raised IOP from birth. The classic presentation triad is epiphora, photophobia, and blepharospasm in an infant. Physical signs include buphthalmos (enlarged globe, corneal diameter >12 mm in a neonate), corneal oedema (haziness), and Haab striae (horizontal breaks in Descemet membrane). Normal IOP is 10–21 mmHg; PCG values are typically >21 mmHg, confirmed by EUA with a Perkins tonometer. The key differential is nasolacrimal duct obstruction (normal IOP, mucopurulent discharge, no photophobia). Inheritance is predominantly autosomal recessive (CYP1B1 mutations). Management is SURGICAL, not medical: goniotomy (clear cornea) or trabeculotomy (hazy cornea) are the angle surgery options of choice, with success rates >80%. Medical therapy is a temporary bridge. Post-operatively, amblyopia management (spectacles + patching) is mandatory to achieve useful vision. Optic disc cupping can partially reverse in infants after IOP control — a unique and hopeful biological feature.

REFLECT

Think back to the infant in the opening case. Before this module, you might have attributed his symptoms to a blocked tear duct — a reassuring and common diagnosis. Now you can identify the red flags (photophobia, corneal enlargement, haziness) that demand urgent referral rather than watchful waiting. Reflect on how the anatomy of the developing anterior chamber angle connects the molecular (CYP1B1 gene) to the cellular (trabeculodysgenesis) to the organ (buphthalmos) to the clinical (triad) to the therapeutic (surgery corrects the structural obstruction). This layered understanding — from gene to patient outcome — is the hallmark of CBME-aligned clinical reasoning. How would you counsel this infant's parents about the urgency of surgery and the realistic expectation of good outcomes if treatment is prompt? What would you say about the genetic implications for their next child?