Persistent hyperplastic primary vitreous and Aicardi syndrome

Introduction: Aicardi syndrome is characterized by infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. This disorder affects mostly females, with early embryonic lethality in males. Numerous general and ocular disorders may be associated with this affection. We present here a case of persistent hyperplastic primary vitreous (PHPV) in association with Aicardi syndrome in a 30-year-old woman. Case report: The authors report a case of a 30-year-old woman with Aicardi syndrome associated with persistent hyperplastic primary vitreous Discussion: Aicardi syndrome is a polymalformative disease occurring at an early period of embryogenesis. It can affect many ocular structures. This syndrome is essentially described in female children, who rarely reach an adult age. The observation we report is particular because of the patient's age (30-years-old) and the association with a persistent hyperplastic primary vitreous, exceptional in this context. Conclusion: With a review of the literature, the authors discuss the clinical neuroradiological and prognostic aspects of this polymalformative syndrome and different associated general and ocular abnormalities, emphasizing particularly those of persistent hyperplastic primary vitreous in this affection.