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Congenital/Infantile Glaucoma

URGENT — Glaucoma

Symptoms

Classic Presentation

  • Epiphora (excessive tearing), photophobia, and blepharospasm in an infant.
  • Parents may note a "cloudy" appearance to the eye or general irritability.

Advanced or Late Signs

  • Noticeably enlarged eye (buphthalmos).
  • Progressive myopia or unexplained vision loss in older children.
  • Asymptomatic IOP elevation in cases without early corneal changes.

Clinical Findings

The Classic Triad

  • Corneal Clouding: Stromal and epithelial edema resulting from acute IOP rise.
  • Buphthalmos: "Ox eye" appearance caused by the elastic infant sclera stretching under pressure (usually before age 3).
  • Haab Striae: Pathognomonic horizontal or concentric breaks in Descemet membrane.

Diagnostic Thresholds

  • Horizontal Corneal Diameter: >12 mm before age 1, or >13 mm at any age is highly suspicious.
  • IOP: Typically >21 mmHg; note that most anesthetic agents (except ketamine) lower IOP, potentially masking the true severity during EUA.
  • Optic Nerve: Progressive cupping; uniquely, early cupping can reverse in infants if IOP is controlled promptly.

Anatomy & Gonioscopy

  • Goniodysgenesis: High iris insertion (anterior to the scleral spur) with a translucent membrane covering the angle.
  • Bilateral in ~80% of primary cases but often presents with significant asymmetry.
  • Look for secondary signs like corectopia or heterochromia in syndromic forms.

Etiology

Primary Congenital Glaucoma

  • Isolated incomplete differentiation of the trabecular meshwork during embryogenesis.

Secondary & Syndromic

  • Aphakic Glaucoma: The most common form of pediatric glaucoma; a lifelong risk after cataract surgery.
  • Sturge–Weber Syndrome: Associated with ipsilateral port-wine stains and leptomeningeal angiomatosis.
  • Anterior Segment Dysgenesis: Axenfeld–Rieger spectrum, Peters anomaly, or aniridia.
  • Systemic/Other: Neurofibromatosis (NF1), Lowe syndrome, congenital rubella, or Retinopathy of Prematurity (ROP).

Red Flags

  • The Triad: Epiphora + Photophobia + Blepharospasm = Glaucoma until proven otherwise.
  • Haab Striae vs. Trauma: Horizontal breaks = Glaucoma; Vertical/Oblique breaks = Forceps birth trauma.
  • Brimonidine Warning: Strictly contraindicated in infants due to the risk of lethal CNS depression and apnea.
  • Shifting Myopia: Rapidly progressing myopia in an infant is a clinical proxy for uncontrolled IOP.

Investigations

Office Assessment

  • Measurement of horizontal corneal diameter with calipers.
  • IOP check and retinoscopy (axial length surrogate).
  • Portable slit-lamp exam to evaluate for Descemet breaks.

Examination Under Anesthesia (EUA)

  • Mandatory for definitive diagnosis and surgical planning.
  • Comprehensive check: Corneal diameter, IOP, gonioscopy, and axial length (A-scan).
  • Normal Axial Length: ~17 mm at birth, increasing to ~20 mm by age 1; excess growth indicates pressure-driven stretching.

Treatment

Definitive Surgical Therapy

  • Goniotomy: Preferred first-line if the cornea is clear enough for visualization.
  • Trabeculotomy: Indicated when corneal clouding prevents a clear view of the angle.
  • Refractory Cases: Glaucoma drainage devices (tubes) or cyclophotocoagulation.

Medical (Temporizing Only)

  • Oral Acetazolamide: 15–30 mg/kg/day (most effective pre-surgical medical bridge).
  • Topical Agents: Timolol (0.25% in infants) or Dorzolamide.
  • Strict Avoidance: Never use brimonidine in children under age 2.

Clinical Pearl

Epiphora, photophobia, and blepharospasm in a baby is congenital glaucoma, not a "clogged tear duct." If the cornea looks large or cloudy, check the IOP—and whatever you do, keep the brimonidine far away from the nursery. Remember that horizontal Descemet breaks (Haab striae) equal glaucoma, while vertical breaks equal birth trauma.

Differential Diagnosis

  • • Megalocornea: Large cornea but normal IOP, no striae, and normal optic nerves.
  • • Nasolacrimal Duct Obstruction: Tearing without photophobia or corneal clouding.
  • • Forceps Trauma: Vertical corneal breaks; history of difficult delivery.
  • • CHED: Congenital Hereditary Endothelial Dystrophy (bilateral corneal edema without high IOP).

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