Osteoporosis-Pseudoglioma Syndrome

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.

Epidemiology

The estimated prevalence is 1/2 000 000.

Clinical description

Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, mental retardation and hypotonia.

Etiology

The disease is caused by mutations in the low-density lipoprotein receptor related protein 5 gene (LRP5).