Abstract

Aicardi Syndrome is an extremely rare, X linked genetic disorder characterized by agenesis of corpus callosum, chorioretinal lacunae and seizures.Females are commonly affected.
A 4 year old female child, referred from paediatric department came to opd for ocular check up.Parents gave history of febrile seizures and gross developmental delay.
Clinical examination showed hypotonic child with microcephaly and gross developmental delay.She was unable to sit without support but reaches out for gross object.
On ocular examination, child showed telecanthus with poor fixation, anterior segment was within normal limits.
MRI brain was performed, showed agenesis of corpus callosum.