Aicardi syndrome: More than meets the eye

Susan H. Carney, Michael C. Brodsky, William V. Good, Charles M. Glasier, May L. Greibel, Christopher Cunniff

Research output: Contribution to journalArticle

41 Scopus citations

Abstract

An eight-month-old girl with infantile spasms and apparent blindness had electroencephalographic findings compatible with Aicardi syndrome. In addition to optic nerve hypoplasia, there were multiple congenital retinal malformations in the right eye, including chorioretinal lacunae, anomalous retinal vessels, posterior scleral ectasia, and a peripheral fibrous ridge. Magnetic resonance imaging demonstrated agenesis of the corpus callosum, absence of the septum pellucidum, optic nerve and chiasmal hypoplasia, pachygyria, cortical heterotopias, colpocephaly, and hypoplasia of the cerebellar vermis. This patient illustrates the broad spectrum of cerebroretinal malformations now known to characterize Aicardi syndrome.

Original languageEnglish (US)
Pages (from-to)419-424
Number of pages6
JournalSurvey of Ophthalmology
Volume37
Issue number6
DOIs
StatePublished - Jan 1 1993

Keywords

  • Aicardi syndrome
  • magnetic resonance imaging
  • optic nerve hypoplasia
  • septo-optic dysplasia

ASJC Scopus subject areas

  • Ophthalmology

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    Carney, S. H., Brodsky, M. C., Good, W. V., Glasier, C. M., Greibel, M. L., & Cunniff, C. (1993). Aicardi syndrome: More than meets the eye. Survey of Ophthalmology, 37(6), 419-424. https://doi.org/10.1016/0039-6257(93)90139-X