Archive \ Volume.11 2020 Issue 2

Corpus Callosum Agenesis with Chorioretinal Abnormality (Aicardi Syndrome): An Educational Review

Lalrameng Mawii , Khayati Moudgil
Abstract

According to the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH), Aicardi syndrome is a genetic condition affecting about 1 in 105,000 to 167,000 new-borns in the United States. This disease primarily affects females and is characterized by infantile spasms, partial or complete agenesis of corpus callosum (white holes) and characteristic lucan-shaped chorioretinal lesions (eye defects). Signs normally occur between the ages of 2 and 5 months, marked by a form of seizure in children, wheezing, and the appearance of yellowish spots in the eye, which may lead to epilepsy in later stages. There is no particular medication available for Aicardi Syndrome, but signs and causes can be resolved through therapy‎.



How to cite:
Mawii L & Moudgil K. Corpus Callosum Agenesis with Chorioretinal Abnormality (Aicardi Syndrome): An Educational Review . Pharmacophore 2020;11(2):36-9