A 3-month-old male infant is brought to the pediatrician by his mother because she is concerned about his "unusually large and beautiful eyes." The mother also reports that the infant has been excessively tearing and seems to squint and cry whenever they are in bright sunlight. On physical examination, the infant's corneas appear enlarged bilaterally with a diameter of 13 mm and demonstrate a faint, hazy opacification. There is also evidence of blepharospasm during the penlight exam. Dilated fundoscopy reveals an increased cup-to-disc ratio of 0.6.
Which of the following is the most appropriate next step in the management of this patient?
The correct answer is:
A) Goniotomy
This patient is presenting with the classic triad of primary congenital glaucoma: excessive tearing, photophobia, and blepharospasm (involuntary eyelid closure). The "beautifully large eyes" refer to buphthalmos, which occurs because the immature infant globe is more distensible than an adult globe and stretches in response to increased intraocular pressure (IOP). The enlarged corneal diameter (>11 mm in a newborn or >12 mm in an infant under age 1) and corneal haze (edema) are hallmark signs. Unlike adult-onset glaucoma, primary congenital glaucoma is fundamentally a surgical disease. The first-line definitive treatment is a goniotomy or a trabeculotomy, which involves surgically opening the maldeveloped trabecular meshwork to facilitate aqueous outflow.
Answer choice B: Laser trabeculoplasty, is incorrect. This procedure is used in the management of chronic open-angle glaucoma in adults to increase aqueous outflow. It is not used as a primary treatment for congenital glaucoma, where the anatomy of the angle is fundamentally malformed and requires direct surgical incision.
Answer choice C: Observation and re-examination in 3 months, is incorrect. Primary congenital glaucoma is an urgent condition. Delayed treatment can lead to permanent optic nerve damage, irreversible corneal scarring, and amblyopia. The presence of corneal haze and an increased cup-to-disc ratio indicates active, sight-threatening disease that requires immediate intervention.
Answer choice D: Topical latanoprost, is incorrect. While prostaglandin analogs are first-line for adult open-angle glaucoma, they are generally less effective in pediatric patients. While medical therapy may be used temporarily to lower IOP while awaiting surgery, it is not the most appropriate next step for management.
Answer choice E: Topical timolol, is incorrect. Topical beta-blockers can be used as adjunctive therapy to lower IOP in children. However, they must be used with extreme caution in infants due to the risk of systemic absorption leading to bradycardia or apnea. Medical therapy is secondary to surgical intervention in the management of congenital glaucoma.
Key Learning Point
Primary congenital glaucoma is characterized by the triad of excessive tearing, epiphora, photophobia, and blepharospasm. Physical signs include buphthalmos (enlarged globe) and corneal clouding. Unlike adult glaucoma, the definitive management is surgical (e.g., goniotomy or trabeculotomy) to address the maldevelopment of the aqueous outflow tract.
