Choriretinal lacunae aid in the diagnosis of Aicardi syndrome

Abstract

A 2-month-old girl, born at 38 weeks’ gestation via cesarean section, was referred to Dr. R. P. Centre, AIIMS, New Delhi, with a diagnosis of retinal detachment in the left eye. On examination, the child showed no response to bright light in each eye. Pupillary reaction was sluggish in each eye. Fundus examination revealed chorioretinal lacunae involving the posterior pole in right eye and retinal detachment in the left eye. Further inquiry elicited a history of neonatal intensive care unit admission and seizures at birth. The child was referred to a pediatrician, and magnetic resonance imaging showed agenesis of the corpus callosum. The baby was diagnosed with Aicardi syndrome, having the classic triad of infantile spams, corpus callosum agenesis, and chorioretinal lacunae. The parents were counseled regarding the guarded visual prognosis, need for regular follow-up, and the role of early visual rehabilitation and multidisciplinary care.