Aicardi syndrome: the importance of an ophthalmologist in its diagnosis

Indian J Ophthalmol. 2009 May-Jun;57(3):234-6. doi: 10.4103/0301-4738.49403.

Abstract

Aicardi syndrome is a rare genetic disorder. The salient features of this syndrome include agenesis of corpus callosum, chorioretinal lacunae and infantile spasms. Of these three, chorioretinal lacunae is the most constant feature present. This case highlights the importance of fundus findings by an ophthalmologist in making the diagnosis of this rare syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Agenesis of Corpus Callosum*
  • Electroencephalography
  • Eye Abnormalities / diagnosis*
  • Female
  • Humans
  • Infant
  • Optic Disk / abnormalities*
  • Retinal Diseases / congenital*
  • Spasms, Infantile / congenital*
  • Syndrome
  • Tomography, X-Ray Computed