Osteoporosis pseudoglioma syndrome

Last revised by Daniel J Bell on 27 Sep 2018

Osteoporosis pseudoglioma syndrome is a rare autosomal recessive disease that is characterized by severe osteoporosis and blindness. This disease is frequently mistaken for osteogenesis imperfecta

This disease is encountered in approximately 1 in 2 million births. 

This disorder is caused by a mutation in the gene encoding the low-density lipoprotein receptor-related protein 5 (LRP5). This gene plays an important role in bone remodeling 1

The juvenile onset of severe osteoporosis is a constant finding, which is variably associated with one or multiple fractures and bone deformities. Fractures predominate in the spine and lower extremity. Wormian bones are frequently encountered. This combination of findings usually leads to the incorrect diagnosis of osteogenesis imperfecta 2

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