Treatment and management of osteoporosis-pseudoglioma syndrome

Osteoporosis-pseudoglioma syndrome (OPPG; MIM 259770) is a very rare genetic disorder with an autosomal recessive mode of inheritance, characterized by congenital or infancy-onset visual loss and skeletal fragility, diagnosed during childhood. This syndrome can lead to severe disability and chronic bone pain. Low-density lipoprotein receptor-related protein 5 (LRP5) is the gene mutated and inactivated in OPPG, and plays a pivotal role in bone accrual and skeletal remodeling by controlling bone formation through activators, such as Wnt proteins, or inhibitors, such as DKK1. OPPG should be differentiated from osteogenesis imperfecta and child abuse by clinicians. Eye examination, coupled to bone phenotype and research of LRP5 mutation, are key points to diagnose OPPG. Chronic pain should be managed correctly in this syndrome with severe functional disability. Bisphosphonates allows fracture prevention, the catch-up of bone mineral density and improvement in mobility in children with OPPG. New drugs favoring osteoblast function and osteoclast inhibition are potential candidates in the treatment of OPPG.