Septo-optic dysplasia

Abstract

Septo-optic dysplasia (SOD) or de Morsier's syndrome is a rare congenital disorder characterized by a classic triad of: (a) optic nerve hypoplasia, (b) agenesis of septum pellucidum and corpus callosum, and (c) hypoplasia of the hypothalamic-pituitary axis. This chapter will outline the key information regarding the etiology and epidemiology of this syndrome with a focus on its comprehensive management. Particular attention will be paid to the diagnostic stage and the most relevant differential diagnosis, before moving to the complexities of its treatment. In fact, although SOD is not curable, many aspects of this syndrome can be improved through a tailored multidisciplinary approach consisting in hormonal replacement, corrective ophthalmological surgery, management of epileptic seizures, and active neuropsychological support.

Keywords: Achiasmia; Agenesis of septum pellucidum; Hydrocephalus; Hypopituitarism; Optic nerve hypoplasia; Septo-optic dysplasia; de Morsier's syndrome.