Conditions / Syndrome
osteoporosis-pseudoglioma syndrome
info · Syndrome
A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compoun
A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13.
Signs and symptoms
- Retinal detachment
- Blindness
- Reduced visual acuity
- Increased susceptibility to fractures
- Pseudoglioma
- Platyspondyly
- Reduced bone mineral density
- Osteoporosis
- Congenital blindness
- Recurrent fractures
Also known as: OPPG; ocular form of osteogenesis imperfecta