The Optic Nerve
Bilateral Optic Nerve Coloboma

  • Uncommon, unilateral or bilateral congenital condition caused by incomplete closure of the embryonic fissure.
  • May present as sporadic cases or autosomal dominantly inherited (bilateral).
  • Clinical features:
    • Visual field defects
    • Relative afferent pupillary defect (RAPD)
    • Signs:
      • Enlarged, sharply circumscribed, glistening white and deeply excavated optic disc which usually occurs inferiorly
      • May mimic glaucomatous cupping in mild cases
      • Can develop serous macular detachment
    • Other associated ocular findings may include:
      • Coloboma of the lens, ciliary body and choroid
      • Microphthalmos with orbital cyst
      • Persistent hyaloid artery
      • Retinal dysplasia
  • May also be part of systemic anomalies, including:
    • CHARGE association (coloboma, congenital heart disease, and choanal atresia, growth or development retardation with multiple anomalies).
    • Trisomy 13.
    • Meckel's Syndrome (bilateral ocular disorders associated with multisystem developmenteal abnormalities).
    • Aicardi's Syndrome (bilateral ocular condition associated with disorder of cranial, choroidal-pigment epithelial and skeletal development.

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