Septo Optic Dysplasia Plus ( A rare variant of Demorsier's syndrome )- A case report

Abstract

Abstract : Septo-optic dysplasia(SOD), also known as de Morsiers syndrome is a congenital malformation                         syndrome.We here by report a case of a 25 years old male who presented with the following clinical features. History of defective vision since childhood in both eyes,with bilateral abnormal eye movements, mental retardation and seizures since childhood.Ocular examination showed roving                            nystagmus present, illsustained pupillary reaction present in both eyes. Fundus showed hypoplastic optic disc more in LE than RE.Systemic examination patient had mental retardation. Patient was on medications for seizures since childhood to 15 years of age . MRI imaging of brain and orbit showed absent septum pellucidum, optic nerve hypoplasia more in LE than RE, exvacuodilation of lateral ventricle with undulating               meninges present. Loss of periventricular white matter            present. Based on the above findings patient was diagnosed as a case of septo optic dysplasia plus ( A rare variant of Demorsiers syndrome ) . This case is reported for its rarity.