Aicardi syndrome: the importance of an ophthalmologist in its diagnosis

Abstract

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.

Figure 1a

Retcam photo of right eye shows optic disc coloboma (black arrow) and dome shaped loci of pale areas with sharp borders nasal to the optic disc suggestive of chorio retinal lacunae (white arrows).

Figure 1b

Retcam photo to left eye showing also showing optic disc coloboma (black arrow) and chorio retinal lacunae nasal to optic disc (white arrow).

Figure 2

Axial CT brain showing parallelism of ventricles with a small inters hemispheric cyst (white arrow) and no impression of splenium suggestive of hypogenesis of corpus callosum.