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Iris coloboma with a bridging iris tissue.

  • Clinical features:
    • Symptoms:
      • Maybe asymptomatic
      • Blurry vision
      • Glare
    • Signs:
      • Typically located inferonasally
      • Appears as notches in iris or "keyhole pupils"
      • May or may not be associated with chorioretinal coloboma
      • Absence of zonules in the area of a ciliary body coloboma results in lens notching (coloboma)
  • Other associated syndromes may include:
    • Autosomal dominant uveal coloboma
    • Cat eye syndrome
    • Edwards' syndrome
    • Patau's syndrome
    • Linear nevus sebaceous syndrome.
  • Management:
    • Supportive with sunglasses, tinted contact lens or contact lens with artificial pupil
    • Surgical iridoplasty in patients with severe and intolerable symptoms

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