Hereditary progressive arthro-ophthalmopathy of Stickler.
The ocular histopathologic findings in three patients with the Stickler syndrome from two families included the following: total retinal detachment with marked folding, disorganization of the retina, and a preretinal membrane. The progression of the fundus lesions was followed up in two patients during the course of 30 and 24 years. Many cases variously reported as Wagner's disease, familial retinal detachment, hyaloideoretinopathy with cleft palate, and the Pierre Robin syndrome probably were the Stickler syndrome.
D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D005654:Fundus Oculi; D005799:Genes, Dominant; D006801:Humans; D007592:Joint Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D009887:Ophthalmoscopy; D010855:Pierre Robin Syndrome / Q000175:diagnosis / Q000473:pathology; D012160:Retina / Q000002:abnormalities* / Q000473:pathology; D012163:Retinal Detachment / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D013577:Syndrome