Three Years Follow-up of Pamidronate Therapy in Two Brothers with Osteoporosis-Pseudoglioma Syndrome (OPPG) Carrying an LRP5 Mutation

The affected brothers carry a missense mutation in the third codon of exon 8 (AAT-->ATT) that led to the exchange of an asparagine for an isoleucine (N531I). Both parents were found to be heterozygous for this mutation. The intravenous pamidronate therapy was safe for up to 3 years of use. Moreover, increased BMD and decreased fracture rate were observed in our patients with OPPG.