Septo-Optic dysplasia

Septo-optic dysplasia is a genetic disease which usually is sporadic in nature, but sometimes is found to have autosomal inheritance, most commonly recessive but sometimes dominant pattern is also observed. Septo-optic dysplasia occurs when development of prosencephalon is affected. Its classical triad consist of optic nerve hypoplasia, pituitary hypoplasia and absence of septum pellucidum and carpus callosum. This heterogeneous condition presents with variety of phenotypes together with other anomalies like grey matter heterotopias, hydrocephalus, polymicrogyria. It shows a wide spectrum of symptoms involving multiple organs and organ systems of the body including brain, eyes, nose, ear and muscles, and endocrine system. The disease is said to be sporadic overall but some cases tend to be run in families as well. However, the reported incidence of these cases is less than 1% and as a result genetic diagnosis can be made in less than 1% of the cases Diagnosis of this disease is made by taking history, performing examinations and investigations. Multidisciplinary approach is to be adopted and a team of specialists of different clinical fields have to work together and coordinate for the management of septo-optic-dysplasia.