Osteoporosis-pseudoglioma syndrome - MedlinePlus
Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. Explore symptoms, inheritance, genetics of this condition.
Osteoporosis-pseudoglioma syndrome | About the Disease | GARD
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.
Osteoporosis-pseudoglioma syndrome - Orphanet
Osteoporosis-pseudoglioma (OPPG) syndrome patients have reduced bone formation and poor bone quality. Fractures typically occur in both long bones and vertebrae, after age 2 until puberty. Some patients have eye pain severe enough to require enucleation.
Osteoporosis-pseudoglioma syndrome - Wikipedia
Osteoporosis-pseudoglioma syndrome or OPGG is a rare genetic condition characterized by early-onset blindness and severe osteoporosis alongside seemingly random bone fractures. It is clinically characterized by severe osteoporosis which is usually recognized and posteriorly diagnosed in early childhood.
osteoporosis-pseudoglioma syndrome - National Organization …
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.
Osteoporosis-Pseudoglioma Syndrome | Hereditary Ocular …
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13
Osteoporosis Pseudoglioma Syndrome OPPG - Boston Children's Hospital
The osteoporosis-pseudoglioma syndrome (OPPG) is an autosomal recessive disorder that affects skeletal strength and vision. The first sign of OPPG is often congenital or infancy-onset vision loss due to abnormal blood vessel development in the eye.
Osteoporosis with pseudoglioma (Concept Id: C0432252)
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.
Clinical and Molecular Findings in Osteoporosis-Pseudoglioma …
2005年9月27日 · Osteoporosis-pseudoglioma syndrome (OPPG [MIM 259770]) is an autosomal recessive disorder generally characterized by congenital or infancy-onset visual loss and skeletal fragility recognized during childhood.
Osteoporosis-pseudoglioma syndrome, a disorder affecting …
Osteoporosis-pseudoglioma syndrome (OPS) is an autosomal recessive disorder characterized by severe juvenile-onset osteoporosis and congenital or juvenile-onset blindness. The pathogenic mechanism is not known.
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