Septo-optic dysplasia: clinical study and elements of genetic counseling

The authors report two cases of optic hypoplasia associated with neurological abnormalities and discuss the anatomical, pathophysiological and genetic aspects of the "Septo-Optic Dysplasia". This syndrome is not a homogeneous condition. Available data suggest that the septo-optic dysplasia occurs as a consequence of an embryofoetopathy and not of a genetically determined failure of development. The genetic counselling is described.