hrp0097p1-218 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Osteoporosis pseudoglioma syndrome: a case report of a child with osteoporosis and impaired vision

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...