Pseudogliomatous osteoporosis syndrome: association of blindness with multiple fractures

Primary osteoporosis contains a compendium of emerging etiologies and can occur syndromically. The association of multiple bone fractures with the presence of congenital retinal folds should guide the diagnosis of osteoporosis-pseudogliomatous syndrome.

It is a rare autosomal recessive disorder characterized by severe osteoporosis and early-onset blindness. Loss-of-function mutations in the gene encoding low-density lipoprotein receptor (LRP5), related protein 5 appear to be responsible for the onset of this disease.

We present a case of a child with bilateral hyperplastic vitreous and a history of fractures whose clinical, biochemical and genetic studies confirm the diagnosis of this unusual pathology.