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Iris cyst in a child with Aicardi syndrome: a novel association

Ariane Chappaz1, Daniel Barthelmes1, Lorenz Buser2

  • 1Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland.

Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|June 21, 2016
PubMed

Insights

Aicardi syndrome, a rare X-linked disorder, involves brain and eye abnormalities. This case highlights severe ocular malformations in an infant, including a surgically removed anterior chamber cyst.

Area of Science:

  • Neuroscience
  • Ophthalmology
  • Genetics

Background:

  • Aicardi syndrome is a rare X-linked cerebro-retinal disorder.
  • Key features include agenesis/dysgenesis of the corpus callosum, seizures, and chorioretinal lacunae.
  • Ocular anomalies such as microphthalmia and optic nerve coloboma can also occur.

Observation:

  • This report details an infant diagnosed with Aicardi syndrome.
  • The infant presented with severe ocular malformations.
  • One eye exhibited an anterior chamber cyst.

Findings:

  • The anterior chamber cyst was successfully surgically removed.
  • This case underscores the spectrum of ocular presentations in Aicardi syndrome.

Implications:

  • Early identification and surgical intervention for ocular anomalies may be crucial in managing Aicardi syndrome.
  • Further research into the ocular manifestations of Aicardi syndrome is warranted.

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