title: Optic nerve aplasia in Aicardi syndrome.
abstract: Aicardi syndrome, first described by French neurologist Jean François Marie Aicardi in 1965, is a constellation of features characterized mainly by the triad of early infantile spasms, chorioretinal lacunae, and agenesis of the corpus callosum. The authors describe a 1-year-old child with Aicardi syndrome with previously unreported ophthalmic features of aplasia of the right optic nerve and bilateral iris colobomas.
authors.affiliation: Bascom Palmer Eye Institute, Miami, Florida 33136, USA.
authors.forename: Hassan A
authors.initials: HA
authors.lastname: Aziz
authors.forename: Robert A
authors.initials: RA
authors.lastname: Sisk
authors.forename: Audina M
authors.initials: AM
authors.lastname: Berrocal
authors.forename: Timothy G
authors.initials: TG
authors.lastname: Murray
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000175:diagnosis; D058540:Aicardi Syndrome / Q000150:complications* / Q000175:diagnosis; D003103:Coloboma / Q000175:diagnosis; D005260:Female; D006801:Humans; D007223:Infant; D007498:Iris / Q000002:abnormalities; D008279:Magnetic Resonance Imaging; D009901:Optic Nerve Diseases / Q000000981:diagnostic imaging / Q000209:etiology*; D012160:Retina / Q000002:abnormalities; D012163:Retinal Detachment / Q000000981:diagnostic imaging; D014463:Ultrasonography