Osteoporosis-Pseudoglioma Syndrome (OPPG)

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MedlinePlus Genetics: ⁴² Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple bone fractures, including in the bones that form the spine (vertebrae). Multiple fractures can cause collapse of the affected vertebrae (compressed vertebrae), abnormal side-to-side curvature of the spine (scoliosis), short stature, and limb deformities. Decreased bone mineral density can also cause softening or thinning of the skull (craniotabes).Most affected individuals have impaired vision at birth or by early infancy and are blind by young adulthood. Vision problems are usually caused by one of several eye conditions, grouped together as pseudoglioma, that affect the light-sensitive tissue at the back of the eye (the retina), although other eye conditions have been identified in affected individuals. Pseudogliomas are so named because, on examination, the conditions resemble an eye tumor known as a retinal glioma.Rarely, people with osteoporosis-pseudoglioma syndrome have additional signs or symptoms such as mild intellectual disability, weak muscle tone (hypotonia), abnormally flexible joints, or seizures.

MalaCards based summary: Osteoporosis-Pseudoglioma Syndrome, also known as oppg, is related to retinal detachment and vitreoretinopathy. An important gene associated with Osteoporosis-Pseudoglioma Syndrome is LRP5 (LDL Receptor Related Protein 5), and among its related pathways/superpathways are Signal Transduction and RAF/MAP kinase cascade. The drugs Lithium carbonate and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and retina, and related phenotypes are osteoporosis and increased susceptibility to fractures

UniProtKB/Swiss-Prot: ⁷³ A disease characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, intellectual disability and hypotonia.

Disease Ontology: ¹¹ 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.

GARD: ¹⁹ Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.

Orphanet: ⁵⁸ Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.

Wikipedia: ⁷⁵ Osteoporosis-pseudoglioma syndrome or OPGG is a rare genetic condition which is characterized by... more...

Clinical features from OMIM®:

Search NIH Clinical Center for Osteoporosis-Pseudoglioma Syndrome