Summary
Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, mental retardation and hypotonia. The estimated prevalence is 1/2 000 000. The disease is caused by mutations in the low-density lipoprotein receptor related protein 5 gene (LRP5). *Author: Orphanet (March 2006)*.
