Aicardi Syndrome

Anterior Segment: Microcornea with or without coloboma

Posterior Segment: Chorioretinal Lacunae radiating from optic disc most often

absence of neurosensory retina, attenuated choroid, RPE hyperplasia

Photoreceptor rosettes and photoreceptor inversions

Visual prognosis better without lacunae

Gross motor and language worse if many large lacunae

Xp22 mutation

X-Linked Dominant

Lethal in Males

Neuro: Mental retardation, Characteristic EEG

ENT: Cleft Lip and Palate

Skin: Scalp lipomas, cavernous hemangiomas

Bone: Vertebral and rib abnormalities

OMIM 304050

McMahon RG, Bell RA, Moore GRW, Ludwin SK. Aicardi's Syndrome, A Clinicopathologic Study. Arch Ophthalmol 102; 250-53,1984