Inherited hyaloideoretinopathy and skeletal dysplasia.
Twenty-one patients from five families displaying the ocular defects of dominantly inherited hyaloideoretinopathy as originally described by Wagner were surveyed radiographically for skeletal defects. A mild generalized epiphyseal dysplasia was found in twenty. A comparison of the skeletal dysplasia associated with arthro-ophthalmopathy and that found in families with Wagner's disease reveals more similarities than differences. It is concluded that Wagner's disease is a dominantly inherited syndrome of ocular defects that includes myopia, vitreous syneresis with membranes, and radial perivascular chorioretinal degeneration. It is associated with radiographically demonstrated generalized epiphyseal dysplasia that is manifested clinically by flattening of the mid-face and palatoschisis.
D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002386:Cataract / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D005260:Female; D005901:Glaucoma / Q000235:genetics; D006617:Hip Dislocation / Q000235:genetics; D006801:Humans; D008297:Male; D008334:Mandible; D008437:Maxilla; D009216:Myopia / Q000235:genetics; D012162:Retinal Degeneration / Q000235:genetics*; D012163:Retinal Detachment / Q000235:genetics; D013122:Spinal Diseases / Q000235:genetics; D013577:Syndrome; D013904:Thoracic Vertebrae; D013977:Tibia