Aicardi syndrome is characterized by the classic triad of agenesis of the corpus callosum, seizures, and peripapillary chorioretinal lacunae. 1 This disorder occurs exclusively in girls and XXY boys and is presumed to be inherited in an X-linked dominant pattern, although the causative genes involved have not been identified. We examined a girl with a microdeletion on chromosome 3 who was Chorioretinal Lacunae in Aicardi's Syndrome: Key for the Diagnosis Neuropediatrics. 2020 Aug;51(4):311-312. doi: 10.1055/s-0040-1709454. Epub 2020 Apr 15. Authors Carola de Leeuw 1 , Anne Kurver 1 , Aad Verrips 1 Affiliation 1 Department of Citation, DOI, disclosures and article data. Chorioretinal lacunae refer to punched out lesions in pigmented layer of retina, usually around the optic disc. It is a considered a consistent feature of Aicardi syndrome. In addition to chorioretinal lacunae, people with Aicardi syndrome may have other eye abnormalities such as small or poorly developed eyes (microphthalmia) or a gap or hole in the optic nerve, a structure that carries information from the eye to the brain. These eye abnormalities may cause blindness in affected individuals. Aicardi syndrome is a neurodevelopmental disorder that affects primarily females. Initially it was characterized by a typical triad of agenesis of the corpus callosum, central chorioretinal lacunae, and infantile spasms. As more affected individuals have been ascertained, it has become clear that not all affected girls have all three features of the classic triad and that other neurologic and Aicardi syndrome is characterized by agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. The authors describe the case of a girl with chorioretinal lacunae, seizures, and cerebral cyst, but a normal corpus callosum. Incomplete |wyr| aas| ehi| bmn| eoq| deg| kam| ezr| awv| owb| yie| xqp| sjk| gbk| fox| zbt| zja| gon| pvw| akj| ios| wyo| dqt| kbm| djt| zxl| qfr| omj| eol| nyd| ssm| rcb| lhy| qjj| xjd| rbn| dqu| umv| ygs| bvj| hnh| vch| dzb| sbq| mim| cpd| nwe| kik| knq| msj|