[Stickler's syndrome or hereditary progressive arthro-ophthalmopathy].
Hereditary Progressive Arthro-Ophthalmopathy was described for the first time by Stickler. The major features of the syndrome are: myopia with retinal detachment and blindness, bone and joint dysplasia with arthropathy, and hearing loss. The condition is autosomal dominant with strong expressivity. Findings of 11 patients from 3 families are reported here: they confirm that this syndrome can be considered as a severe connective tissue disease.
D000328:Adult; D001766:Blindness / Q000209:etiology; D002648:Child; D003094:Collagen / Q000096:biosynthesis; D003240:Connective Tissue Diseases / Q000175:diagnosis / Q000235:genetics; D005128:Eye Diseases / Q000235:genetics; D005260:Female; D006801:Humans; D007592:Joint Diseases / Q000235:genetics*; D008297:Male; D009216:Myopia / Q000235:genetics; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000503:physiopathology; D012162:Retinal Degeneration / Q000235:genetics*; D012163:Retinal Detachment / Q000235:genetics; D013577:Syndrome; D014822:Vitreous Body / Q000473:pathology*
D003094:Collagen
Le syndrome de Stickler ou arthro-ophtalmopathie progressive héréditaire.