hrp0097p1-218 | Bone, Growth Plate and Mineral Metabolism | ESPE2023
Iordanidou Aikaterini
, Toulia Ilektra
, Adamidou Fotini
, Kosta Konstantina
, Papadopoulou Anna
, Roilides Emmanouel
, Papagianni Maria
Introduction: Osteoporosis pseudoglioma syndrome (OPPG) is a rare autosomal recessive disease which is caused by mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene and is characterized by severe early – onset osteoporosis and vitreoretinal complications leading to blindness by young adulthood.Case presentation: We present a case of an 8 years old boy, who was initially referred to our d...