Walsh & Hoyt: Aicardi Syndrome

Aicardi syndrome is a congenital cerebroretinal disorder of unknown etiology. Its salient clinical features are infantile spasms, agenesis of the corpus callosum, a modified form of the electroencephalographic pattern termed hypsarrhythmia, and a pathognomonic optic disc appearance consisting of multiple depigmented chorioretinal lacunae clustered around the disc. Histologically, chorioretinal lacunae consist of well-circumscribed, fullthickness defects limited to the retinal pigment epithelium and choroid. The overlying retina remains intact but is often histologically abnormal.