The Wagner-Stickler syndrome: a study of 22 families

The Wagner-Stickler syndrome is a hereditary progressive arthro-ophthalmopathy with an autosomal dominant pattern of inheritance. Affected persons may have a wide variety of ocular, orofacial, and skeletal problems. We examined 22 index patients and 68 of their relatives. Of these 90 persons (41 in the pediatric age group), 70 were found to have the syndrome. We determined the frequency of the various problems and identified several progressive features. We established an approximate age of onset in the group with known retinal disease and in the asymptomatic group identified by family screening. Although the latter group was initially more mildly affected, they were at risk to develop serious ocular problems. Screening all relatives of affected persons for nonocular features of the syndrome should permit early diagnosis in the asymptomatic group and improve the long-term prognosis.