Publication:

Septo-optic dysplasia: a rare case report

Septo-optic dysplasia (SOD), earlier referred to as de Morsier syndrome, is an uncommon disorder of development wherein the septum pellucidum—a thin membrane located between the two cerebral hemispheres-as well as the eyes and pituitary gland, are affected. It is a spectrum of disorders that causes optic nerve defects and also affects the optic disc. It is also associated with midline brain anomalies and those of the pituitary gland. Thus, the disease may present as visual problems, reduced tone of the muscles, delays in development, and hormonal imbalances. Clinical examination identifies features related to these anomalies. The diagnosis is confirmed by neuroimaging, or a genetic study. Managing such a case requires a multi-disciplinary approach. Here we present an 8-year-old boy who was diagnosed with septo-optic dysplasia and was appropriately managed.