Ophthalmologic findings in Aicardi syndrome

Aicardi syndrome is a rare genetic disorder with a worldwide prevalence of approximately 1 in 100,000.1 It affects mostly girls, presumably inherited in an X-linked dominant fashion. Initially it was characterized by a classic triad of agenesis of the corpus callosum, chorioretinal lacunae, and seizures, predominantly infantile spasms. The full spectrum of this disorder has now been recognized to be much wider. Patients often have other central nervous system abnormalities, such as heterotopias, pachygyria, and polymicrogyria, midline cysts and cerebellar abnormalities, skeletal abnormalities, gastrointestinal dysfunction, and usually significant developmental and intellectual disability. They may also be at risk for developing rare tumors compared to healthy children of similar ages.2 While the hallmark ophthalmologic finding of Aicardi syndrome has been the presence of chorioretinal lacunae,3 a number of other ophthalmologic features have been considered typical of the syndrome. Microphthalmos, anomalous retinal vessels, retinal detachment, dysplasia or coloboma of the optic nerve, persistent pupillary membrane, iris synechiae, posterior staphylomas of the iris or choroid, and cataracts, are seen with varying frequency in affected individuals. Morning glory–like anomalies, involving ring-shaped pigment deposits surrounding or within a colobomatous or staphylomatous optic nerve head, have also been described.4–5 We are aware of no similar large-scale evaluation of Aicardi syndrome cases by a single clinician with description of the clinical ophthalmologic features that often factor so prominently in establishing a diagnosis. Our study endeavors to expand the current understanding of Aicardi syndrome by reporting the ophthalmologic features of 40 girls and investigating a possible correlation with aspects of neurological and developmental severity.