Osteoporosis pseudoglioma syndrome

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 mutations in the gene encoding the low-density lipoprotein receptor-related protein 5 (LRP5). This gene is plays an important in bone remodelling 1

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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Article information

rID: 33521
Sections: Pathology, Syndromes
Tags: refs, cases
Synonyms or Alternate Spellings:

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