The Wagner-Stickler syndrome complex.
The Wagner's vitreoretinal degeneration is a condition characterized by myopia, cataract, optically empty vitreous cavity and retinal breaks leading to retinal detachments with poor surgical prognosis. Several extraocular manifestations were reported to be associated with these eye findings and various syndromes were delineated describing sensorineural deafness, orofacial anomalies and skeletal dysplasias. There is enough evidence to suggest that this condition results from a phenotypic variability of genic origin, transmitted as an irregular autosomal dominant trait. In the absence of knowledge about the primary gene defect, the problems in nosology emphasize the difficulty in distinguishing genetic heterogeneity from variable gene expression. In view of the great deal of similarity between all these syndromes with vitreoretinal degeneration it is suggested that all these entities represent the extremes of the same disease spectrum forming parts of a continuum.
D000015:Abnormalities, Multiple / Q000235:genetics; D001842:Bone and Bones / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D006801:Humans; D009056:Mouth Abnormalities / Q000235:genetics; D009216:Myopia / Q000151:congenital; D012160:Retina / Q000473:pathology; D012162:Retinal Degeneration / Q000235:genetics* / Q000473:pathology; D013577:Syndrome; D014822:Vitreous Body / Q000473:pathology