label: Osteoporosis Pseudoglioma Syndrome
label_lc: osteoporosis pseudoglioma syndrome
description: "An autosomal recessive condition caused by homozygous or compound heterozygous inactivating mutation(s) in the gene LRP5, encoding low-density lipoprotein receptor-related protein 5. This condition is characterized by severe juvenile-onset osteoporosis and congenital or juvenile-onset blindness due to a vascularized retinal mass that resembles a glioma."