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Chorioretinal Lacunae: Pathognomonic Findings for Aicardi Syndrome

Silvana Guerriero, MD; Vittorio Sciruicchio, MD; Roberto De Blasi, MD; Claudio Furino, MD; Giuseppe Smaldone, MD; Lorenza Ciracì, MD and Dante Galeone, MD

Submitted: 11/15/08; Accepted: 12/10/08; Posted: 7/22/09

Aicardi syndrome is characterized by agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. The authors describe the case of a girl with chorioretinal lacunae, seizures, and cerebral cyst, but a normal corpus callosum. Incomplete forms of Aicardi syndrome are reported in the literature, but typical choroidal lacunae are always present and are pathognomonic.