Retrobulbar cysts in Aicardi's syndrome

Case report of a four-year-old girl with Aicardi's syndrome diagnosed from the triad: absence of the corpus callosum, focal seizures, and chorioretinal lacunae. In addition, MR scans and orbital ultrasonography detected retrobulbar cysts behind the right microphthalmic eye not described so far. Analyzing the histological data from two previous reports, it becomes likely that the cysts have formed from abnormal migration of neuroretinal tissue through the border of the optic disc coloboma that was also present. This pathomechanism is also known in isolated colobomatous microphthalmos in which cysts may occur.