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Ophthalmology and Visual Sciences

Aicardi syndrome

Aicardi syndrome

Category(ies): Inherited Eye Disease, Pediatrics
Contributor: Jesse Vislisel, MD

Aicardi syndrome is an X-linked dominant condition that is characterized by the triad of round, depigmented chorioretinal lacunae, agenesis of the corpus collosum, and infantile spasms. It can also be associated with optic nerve colobomas and microphthalmos. The condition is almost always seen in females as it is usually lethal in males.