Congenital Glaucoma

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(also covered in Paediatrics section)

Classification

Primary congenital glaucoma: trabeculodysgenesis
- Onset from birth to 3 years old
- Reduced aqueous outflow due to angle dysgenesis
- M>F
- Usually sporadic and usually bilateral
  - 10% familial: autosomal recessive GLC3 A-D genes, eg. CYP1B1
Primary juvenile glaucoma
- May present up to age 35
- Also associated with CYP1B1 and MYOC genes
Secondary
- Anterior segment dysgenesis eg. Axenfeld-Rieger syndrome, Peters anomaly
- Aniridia: abnormal/absent iris tissue (75% develop glaucoma)
- Congenital cataract/post-operative: highest risk in early surgery and those left aphakic
- Posterior segment abnormalities: persistent fetal vasculature, ROP
- Tumour-related
  - Anterior: juvenile xanthogranuloma, medulloepithelioma
  - Posterior: retinoblastoma
  - Systemic: leukaemia
- Phakomatoses: Sturbe-Weber especially where the naevus flammeus affects both upper and lower lids; NF-1
  - NF-1: ‘congenital iris ectropion syndrome’ comprises unilateral iris ectropion, high iris insertion, smooth/cryptless iris and glaucoma. It is also associated with Rieger anomaly and Prader-Willi syndrome
- Connective tissue disease: Marfan, homocystinuria
- Uveitic

Classic triad: epiphora, photophobia, blepharospasm
Raised IOP
Corneal oedema
Buphthalmos: increased horizontal corneal diameter (>12mm) and longer axial length (>17mm AL and >10.5mm corneal diameter are excessive for a newborn)
Descemet’s breaks: Haab’s striae are typically horizontal or concentric to the limbus (compare with the vertical or oblique orientation of descemet’s tears caused by birth trauma, which also typically affect the left eye more than the right)
Increased pachymetry
Gonioscopy: deep AC, high and flat iris insertion, peripheral iris hypoplasia, absent angle recess
Additional features depending on the aetiology

Best monitored with A-scan ultrasound: excessive growth compared to fellow eye may indicate poor IOP control