Children with septo-optic dysplasia - How to improve and sharpen the diagnosis

The data in this article are based on investigations performed in 25 childr en with suspected septo-optic dysplasia (SOD), There are many signs and met hods that help in the diagnosis of SOD, In particular, the ocular fundus, a bnormalities of the hypothalamo-pituitary axis and other midline brain stru ctures should be described. In order to achieve a more holistic and functio nal diagnosis, the degree of neurological, neuropsychiatric and psychologic al involvement should also be stated. It has been suggested that SOD is ass ociated with autosomal recessive inheritance, and it can be speculated that it is the result of genetic and environmental influences early in gestatio n. An early diagnosis can favourably influence the outcome of the affected child. Copyright (C) 2000 S. Karger AG, Basel.