[Hyaloretinal degeneration with osteoporosis and bone fragility. Pseudoglioma with bone fragility (author's transl)].
Three patients from the same family presented hyaloretinal dysplasia (pseudoglioma) associated with osteoporosis and bone fragility. Results of clinical, ophthalmological, and radiological examinations in these three cases are described, together with those reported in the literature concerning 21 other cases of this rare autosomal-recessive affection.
D000293:Adolescent; D001847:Bone Diseases / Q000175:diagnosis; D003937:Diagnosis, Differential; D005134:Eye Neoplasms / Q000175:diagnosis*; D005260:Female; D005910:Glioma / Q000175:diagnosis*; D006801:Humans; D008297:Male; D010024:Osteoporosis / Q000235:genetics*; D012162:Retinal Degeneration / Q000235:genetics*
Dénénérescence hyalido-rétinienne avec ostéoporose et fragilité osseuse. Psesudo-gliome avec fragilité osseuse.