Hyaloretinal degeneration with osteoporosis and bone fragility. Pseudoglioma with bone fragility
Sauvegrain, J.; Dufier, J.L.; Vacher, H.; Charlot, J.C.; Ho'Ang Phuc, L.; Haye, C.
Journal de Radiologie 62(10): 537-543
1981
ISSN/ISBN: 0221-0363 PMID: 7320981 Document Number: 179365
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.