Anomalies of retinal architecture in Aicardi syndrome.
Eyes obtained at autopsy from a female infant with Aicardi syndrome (chorioretinal lacunae, agenesis of the corpus callosum, and seizures) were studied by light and electron microscopy. The retinal insertion was displaced anteriorly over the ciliary body, the choroid was attenuated, and the retinal pigment epithelium showed hyperplasia and pigment migration throughout the sensory retina. Rosettes of photoreceptorlike cells and inversion of the photoreceptor layer were found. A hole within a lacuna showed total absence of the sensory retina. Optic disc epipapillary tissue consisted of glial and fibrous elements with a vascular core. The mechanism of photoreceptor folding is considered. The continuity of the external limiting membrane with the retinal pigment epithelium at sites of photoreceptor folding seen in our case suggests defective early development.
D061085:Agenesis of Corpus Callosum; D002829:Choroid; D005123:Eye / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009420:Nervous System / Q000473:pathology; D012160:Retina / Q000473:pathology*; D012164:Retinal Diseases / Q000473:pathology*; D012640:Seizures / Q000473:pathology*; D013035:Spasm / Q000473:pathology*; D013577:Syndrome; D014603:Uveal Diseases / Q000473:pathology