Abstract
Septo-optic dysplasia is a rare developmental abnormality of central nervous system which includes various combinations of brain malformations, optic nerve hypoplasia and hypothalamo-pituitary deficiencies. Absence of septum pellucidum, aplasia of corpus callosum and pituitary hypoplasia, abnormalities of fornix and cerebellum, cortical malformations and cysts may be present.
Uni- or bilateral optic nerve hypoplasia is frequently associated with strabismus, nystagmus and/or decreased visual capability. Endocrine symptoms range from isolated growth hormone deficiency to panhypopituitarism and diabetes insipidus and may evolve in time.
The aetiology of septo-optic dysplasia remains unclear. A defect in HESX1 gene was reported in single cases.