Osteoporosis-pseudoglioma syndrome

Alternate names

OPPG; OPS; Osteogenesis imperfecta ocular form; Pseudoglioma with bone fragility; Osteoporosis pseudoglioma syndrome

Definition

Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss.

Epidemiology

Osteoporosis-pseudoglioma syndrome is a rare disorder that occurs in approximately 1 in 2 million people.

Cause

• Osteoporosis-pseudoglioma syndrome is caused by mutations in the LRP5 gene.
• This gene provides instructions for making a protein that participates in a chemical signaling pathway that affects the way cells and tissues develop.
• In particular, the LRP5 protein helps regulate bone mineral density and plays a critical role in development of the retina.

Gene mutations

• LRP5 gene mutations that cause osteoporosis-pseudoglioma syndrome prevent cells from making any LRP5 protein or lead to a protein that cannot function.
• Loss of this protein's function disrupts the chemical signaling pathways that are needed for the formation of bone and for normal retinal development, leading to the bone and eye abnormalities characteristic of osteoporosis-pseudoglioma syndrome.

Inheritance

Autosomal recessive inheritance, a 25% chance

Osteoporosis-pseudoglioma syndrome is inherited in an autosomal recessive pattern, which means both copies of the LRP5 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. However, some carriers may have decreased bone mineral density.

Signs and symptoms

• 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.

Clinical presentation

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Increased susceptibility to fractures(Abnormal susceptibility to fractures)
• Osteoporosis

30%-79% of people have these symptoms

• Angle closure glaucoma
• Congenital blindness(Blindness present at birth)
• Corneal opacity
• Crumpled long bones
• Exudative retinopathy
• Exudative vitreoretinopathy
• Infantile muscular hypotonia(Decreased muscle tone in infant)
• Joint laxity(Joint instability)
• Loss of ability to walk
• Low serum calcitriol
• Metaphyseal widening(Broad wide portion of long bone)
• Osteopenia
• Retinal detachment(Detached retina)
• Severely reduced visual acuity(Marked vision impairment)
• Waddling gait('Waddling' gait)

5%-29% of people have these symptoms

• Abnormal femoral neck/head morphology(Abnormal neck or head of thigh bone)
• Congenital nystagmus
• Delayed gross motor development(Delayed motor skills)
• Delayed speech and language development(Deficiency of speech development)
• Frontal bossing
• Global developmental delay
• Microphthalmia(Abnormally small eyeball)
• Short stature(Decreased body height)
• Visual acuity light perception with projection
• Wormian bones(Extra bones within cranial sutures)

NIH genetic and rare disease info

• NIH info on Osteoporosis-pseudoglioma syndrome

Osteoporosis-pseudoglioma syndrome is a rare disease.

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