What is known:
• OPPG syndrome is a rare genetic disorder characterized by congenital blindness and juvenile osteoporosis.
• Loss of function mutations in the gene encoding low-density lipoprotein receptor-related protein 5 (LRP5) is the genetic defect of the disease.
What is new:
• Genetic and clinical phenotype of 10 new OPPG patients.
• The ten new OPPG patients presented with phenotypical variability in osseous manifestations.