A 3-month-old female infant was referred to the ophthalmology unit aspart of the investigation for infantile spasms. Ocular examination showednormal visual attentiveness and pupillary function. The optic nerves werevertically oval and there were multiple chorioretinal lacunae adjacent tothe discs (Figure 1). Neuroimagesrevealed absence of the corpus callosum. Aicardi syndrome was diagnosed. Bythe age of 6 years devastating neurological deterioration had occurred. Reexaminationof the retinas at this time revealed increased pigmentation of the retinallesions, even within the lacunae (Figure 2).
Ospina LH, Nayak H, McCormick AQ. Progressive Pigmentation of Chorioretinal Lesions in Aicardi Syndrome. Arch Ophthalmol. 2004;122(5):790. doi:10.1001/archopht.122.5.790