Aicardi syndrome

More than meets the eye

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

Research output: Contribution to journalArticle

41 Citations (Scopus)

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 - 1993
Externally publishedYes

Fingerprint

Aicardi Syndrome
Optic Nerve
Lissencephaly
Agenesis of Corpus Callosum
Infantile Spasms
Pathologic Dilatations
Retinal Vessels
Blindness
Magnetic Resonance Imaging

Keywords

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

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Carney, S. H., Brodsky, M. C., Good, W. V., Glasier, C. M., Greibel, M. L., & Cunniff, C. M. (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

Aicardi syndrome : More than meets the eye. / Carney, Susan H.; Brodsky, Michael C.; Good, William V.; Glasier, Charles M.; Greibel, May L.; Cunniff, Christopher M.

In: Survey of Ophthalmology, Vol. 37, No. 6, 1993, p. 419-424.

Research output: Contribution to journalArticle

Carney, SH, Brodsky, MC, Good, WV, Glasier, CM, Greibel, ML & Cunniff, CM 1993, 'Aicardi syndrome: More than meets the eye', Survey of Ophthalmology, vol. 37, no. 6, pp. 419-424. https://doi.org/10.1016/0039-6257(93)90139-X
Carney SH, Brodsky MC, Good WV, Glasier CM, Greibel ML, Cunniff CM. Aicardi syndrome: More than meets the eye. Survey of Ophthalmology. 1993;37(6):419-424. https://doi.org/10.1016/0039-6257(93)90139-X
Carney, Susan H. ; Brodsky, Michael C. ; Good, William V. ; Glasier, Charles M. ; Greibel, May L. ; Cunniff, Christopher M. / Aicardi syndrome : More than meets the eye. In: Survey of Ophthalmology. 1993 ; Vol. 37, No. 6. pp. 419-424.
@article{0c64c3ccca4449538975a407be43727c,
title = "Aicardi syndrome: More than meets the eye",
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.",
keywords = "Aicardi syndrome, magnetic resonance imaging, optic nerve hypoplasia, septo-optic dysplasia",
author = "Carney, {Susan H.} and Brodsky, {Michael C.} and Good, {William V.} and Glasier, {Charles M.} and Greibel, {May L.} and Cunniff, {Christopher M}",
year = "1993",
doi = "10.1016/0039-6257(93)90139-X",
language = "English (US)",
volume = "37",
pages = "419--424",
journal = "Survey of Ophthalmology",
issn = "0039-6257",
publisher = "Elsevier USA",
number = "6",

}

TY - JOUR

T1 - Aicardi syndrome

T2 - More than meets the eye

AU - Carney, Susan H.

AU - Brodsky, Michael C.

AU - Good, William V.

AU - Glasier, Charles M.

AU - Greibel, May L.

AU - Cunniff, Christopher M

PY - 1993

Y1 - 1993

N2 - 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.

AB - 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.

KW - Aicardi syndrome

KW - magnetic resonance imaging

KW - optic nerve hypoplasia

KW - septo-optic dysplasia

UR - http://www.scopus.com/inward/record.url?scp=0027154067&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027154067&partnerID=8YFLogxK

U2 - 10.1016/0039-6257(93)90139-X

DO - 10.1016/0039-6257(93)90139-X

M3 - Article

VL - 37

SP - 419

EP - 424

JO - Survey of Ophthalmology

JF - Survey of Ophthalmology

SN - 0039-6257

IS - 6

ER -