Aicardi syndrome: the importance of an ophthalmologist in its diagnosis.
Aicardi syndrome is a rare genetic disorder. The salient features of this syndrome include agenesis of corpus callosum, chorioretinal lacunae and infantile spasms. Of these three, chorioretinal lacunae is the most constant feature present. This case highlights the importance of fundus findings by an ophthalmologist in making the diagnosis of this rare syndrome.
Shah
Parag K
PK
Pediatric Retina Department, Postgraduate Institute of Ophthalmology, Coimbatore, Tamilnadu, India. drshahpk@vsnl.net
Narendran
V
V
Kalpana
N
N
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D061085:Agenesis of Corpus Callosum; D004569:Electroencephalography; D005124:Eye Abnormalities / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007223:Infant; D009898:Optic Disk / Q000002:abnormalities*; D012164:Retinal Diseases / Q000151:congenital*; D013036:Spasms, Infantile / Q000151:congenital*; D013577:Syndrome; D014057:Tomography, X-Ray Computed