Die erblich fortschreitende Arthro-Ophthalmopathie (Stickler-Syndrom)

Abstract

The hereditary arthro-ophthalmopathy (Stickler-Syndrome) is a relatively frequent dominantly inherited disorder of connective tissue. The main symptom is strong congenital myopia, which develops often to blindness. On the other hand there is a dysplasia of the meta- and diaphysis of the tubular bones, which varies in form and expression. Within difficulties with differential diagnosis to near syndromes it is important to get a clear diagnosis by ophthalmologic, radiologic and family investigations. Within three members of a family the orthopaedic symptomatology is shown. In case of Stickler-Syndrome surgery in the skeleton system should be prevented.