Optic nerve aplasia in Aicardi syndrome

J Pediatr Ophthalmol Strabismus. 2010 May 21:47 Online:e1-4. doi: 10.3928/01913913-20090818-01.

Abstract

Aicardi syndrome, first described by French neurologist Jean François Marie Aicardi in 1965, is a constellation of features characterized mainly by the triad of early infantile spasms, chorioretinal lacunae, and agenesis of the corpus callosum. The authors describe a 1-year-old child with Aicardi syndrome with previously unreported ophthalmic features of aplasia of the right optic nerve and bilateral iris colobomas.

Publication types

  • Case Reports

MeSH terms

  • Agenesis of Corpus Callosum / diagnosis
  • Aicardi Syndrome / complications*
  • Aicardi Syndrome / diagnosis
  • Coloboma / diagnosis
  • Female
  • Humans
  • Infant
  • Iris / abnormalities
  • Magnetic Resonance Imaging
  • Optic Nerve Diseases / diagnostic imaging
  • Optic Nerve Diseases / etiology*
  • Retina / abnormalities
  • Retinal Detachment / diagnostic imaging
  • Ultrasonography

Supplementary concepts

  • Optic Nerve Aplasia, Bilateral