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Congenital Glaucoma

Rare developmental glaucoma in newborns or infants caused by abnormal trabecular meshwork development (trabeculodysgenesis) leading to elevated intraocular pressure, corneal enlargement (buphthalmos), corneal edema, and progressive optic nerve damage.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Göz Hastalıkları department. Book Appointment →

What is Congenital Glaucoma?

Congenital (primary infantile) glaucoma is a developmental glaucoma caused by abnormal differentiation of the trabecular meshwork and angle structures (trabeculodysgenesis), preventing normal aqueous outflow and causing markedly elevated intraocular pressure (IOP). It typically presents within the first year of life (60% by 6 months, 80% by first birthday).

Approximately 10-40% of cases are inherited autosomal recessively with mutations in CYP1B1 (most common), LTBP2, MYOC, or TEK genes. Bilateral involvement occurs in 65-80% of cases. Pathophysiology involves elevated IOP causing rapid corneal enlargement (buphthalmos, since infant cornea/sclera is elastic), Descemet membrane breaks (Haab striae), corneal edema, optic disc cupping, and progressive optic atrophy.

Treatment is primarily surgical because medical therapy has limited efficacy and is poorly tolerated in infants. Angle surgery (goniotomy if cornea clear, trabeculotomy if cornea cloudy) is first-line with 70-90% success in primary cases. Refractory cases require trabeculectomy with mitomycin C, glaucoma drainage devices (Ahmed, Baerveldt), or cyclodestructive procedures. Lifelong follow-up addresses progression, amblyopia, refractive errors (high myopia common in buphthalmos), and visual rehabilitation.

Symptoms

Classic triad: epiphora (excessive tearing), photophobia, blepharospasm
Corneal enlargement (buphthalmos) >12 mm horizontal diameter
Corneal cloudiness (edema)
Haab striae (horizontal Descemet membrane breaks)
Eye rubbing, irritability in infant
Asymmetric eye size (unilateral cases)

Risk Factors

Consanguinity (autosomal recessive)
Family history of congenital glaucoma
CYP1B1, LTBP2, MYOC, TEK gene mutations
Higher prevalence in Saudi Arabia, Romani populations
Associated syndromes (Axenfeld-Rieger, Peters anomaly, Sturge-Weber)
Maternal infection (rare association)

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Excessive tearing in infant (especially without nasolacrimal obstruction)
  • Light sensitivity and eye squeezing
  • Cloudy or enlarged cornea
  • Asymmetric eye size
  • Family history of congenital glaucoma
  • Eye irritability or rubbing in newborn

Treatment Methods

01
Examination under anesthesia: IOP, corneal diameter, gonioscopy, fundus examination, axial length
02
Genetic testing for CYP1B1, LTBP2 mutations; consider associated syndromes
03
Primary surgical treatment: goniotomy (clear cornea) or trabeculotomy (cloudy cornea)
04
Combined trabeculotomy-trabeculectomy in severe cases
05
Refractory: trabeculectomy with mitomycin C, glaucoma drainage device (Ahmed valve)
06
Cyclophotocoagulation for end-stage cases
07
Adjunctive medical therapy (timolol, dorzolamide, latanoprost) cautiously in infants
08
Lifelong follow-up: IOP monitoring, amblyopia treatment, refractive correction (often high myopia), visual rehabilitation

Which Department to Visit?

You can visit our Göz Hastalıkları department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Göz Hastalıkları Department

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.