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[Persistent hyperplastic primary vitreous and Aicardi syndrome]

M Laghmari1, N Boutimzine, N Chakir

  • 1Service Ophtalmologie A, Hôpital des spécialités, Rabat, Maroc.

Journal Francais D'Ophtalmologie
|June 5, 2004
PubMed

Insights

Aicardi syndrome, a rare genetic disorder, can present with ocular abnormalities like persistent hyperplastic primary vitreous (PHPV). This case highlights a 30-year-old female with Aicardi syndrome and PHPV, emphasizing the condition's varied manifestations.

Area of Science:

  • Genetics
  • Neurology
  • Ophthalmology

Background:

  • Aicardi syndrome is a rare genetic disorder characterized by infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae.
  • The syndrome predominantly affects females due to early embryonic lethality in males.
  • Various general and ocular disorders can be associated with Aicardi syndrome.

Observation:

  • This report details a unique case of a 30-year-old woman diagnosed with Aicardi syndrome.
  • The patient presented with a rare ocular complication: persistent hyperplastic primary vitreous (PHPV).

Findings:

  • The association of Aicardi syndrome with PHPV is exceptionally rare, particularly in adult patients.
  • The case underscores the potential for diverse ocular manifestations in Aicardi syndrome, even in adulthood.

Implications:

  • This case expands the understanding of Aicardi syndrome's phenotypic variability and long-term implications.
  • It highlights the importance of comprehensive ophthalmological evaluation in patients with Aicardi syndrome.
  • Further research into the genetic and developmental factors underlying these associations is warranted.
Abstract

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