Bilateral optic disc colobomas with orbital cysts and hypoplastic optic nerves and chiasm

J Clin Neuroophthalmol. 1989 Sep;9(3):172-7.


A 3-month-old boy with bilateral optic disc colobomas and orbital cysts is presented. Both eyes appeared relatively normal in size. Ultrasonography on one side demonstrated a communication between the globe and cyst by way of the optic disc coloboma. On computed tomography and magnetic resonance imaging, the cysts' contents were similar to vitreous. The optic nerves and chiasm appeared markedly hypoplastic on neuroimaging tests. Fluorescein angiography, electroretinography, and visual evoked responses suggested that the visual deficit primarily was ascribable to optic nerve or anterior visual pathway dysfunction.

Publication types

  • Case Reports

MeSH terms

  • Coloboma / complications*
  • Coloboma / diagnosis
  • Cysts / complications*
  • Cysts / diagnosis
  • Electroretinography
  • Evoked Potentials, Visual
  • Fluorescein Angiography
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Optic Chiasm / abnormalities*
  • Optic Disk / abnormalities*
  • Optic Nerve Diseases / complications*
  • Optic Nerve Diseases / diagnosis
  • Orbit / abnormalities
  • Tomography, X-Ray Computed
  • Ultrasonography