Osteoporosis pseudoglioma syndrome is a rare autosomal recessive disease that is characterised 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 in bone remodelling 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.
- 1. Marques-Pinheiro A, Levasseur R, Cormier C et-al. Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome. Joint Bone Spine. 2010;77 (2): 151-3. doi:10.1016/j.jbspin.2009.11.013 - Pubmed citation
- 2. Kozlowski K, Zeman J, Pajerek J. European Radiology. 1995;5 (4): . doi:10.1007/BF00184964