Paediatric Glaucoma

Primary congenital glaucoma

• Rare syndrome of angle dysgenesis causing reduced aqueous outflow

• Bilateral in 70%

• M>F

• Usually sporadic (10% familial). GLC3 A-D genes implicated (eg. CYP1B1 is at GLC3A)

• Usually diagnosed within the first year

• Technically termed primary juvenile glaucoma if diagnosed >5 years

  • Also associated with CYP1B1 and MYOC

Secondary glaucomas

• Anterior segment dysgenesis

  • Axenfeld-Rieger
  • Peters anomaly

• Aniridia

• Aphakic (ie. lens related)

• Persistent fetal vasculature

• ROP

• Tumour related: eg. juvenile xanthogranuloma, Rb, or systemic eg leukaemia

• Phakomatoses esp. Sturge-Weber but also NF-1

• Connective tissue disease eg. Marfan’s homocystinuria

• Uveitis

Clinical features

• Tearing
• Photophobia
• Blepharospasm
• Corneal oedema
• Buphthalmos
• Haab striae

Management

• Medical treatment is often less effective

• Brimonidine causes CNS depression so is contraindicated in children <2 years

• Systemic carbonic anhydrase inhibitors cause lethargy, anorexia and stunted growth so should only be used for short periods

• Surgical options

  • Goniotomy
  • Trabeculotomy/canaloplasty
  • Aqueous shunts (tubes)
  • Trabeculectomy
  • Cycloablation

Mesodermal dysgeneses	Axenfeld’s anomaly	Rieger’s anomaly and syndrome	Peter’s anomaly
Inheritance	AD	AD	AD
	PITX2 gene	FOXC1, PAX6, PITX2, CYP1B1
Iris	Posterior embryotoxon	Posterior embryotoxon	Posterior embryotoxon
	Iris strands	Iris hypoplasia, correctopia, polycoria, ectropion uvea
Cornea			Corneal opacity Keratolenticular adhesions Cornea plana, sclerocornea
Others			Cataract (anterior polar)
Glaucoma	Rare	50%	50%
Systemic	None	Dental and facial malformations in syndromic cases	None