Living with Osteoporosis with pseudoglioma
A rare inherited condition with severe thin bones from early childhood and eye problems that lead to vision loss.
Understanding Osteoporosis with pseudoglioma
Bone thinning is usually found in early childhood. People often have many fractures, including in the spine, which can cause collapsed vertebrae, curved spine, short stature, and limb deformities. Most have poor vision at birth or by early infancy. Vision problems are often from pseudoglioma, eye conditions in the retina that can look like a retinal tumor. Rarely, mild intellectual disability, low muscle tone, loose joints, or seizures occur. GARD lists childhood as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thin, brittle bones (osteoporosis)
- Increased susceptibility to fractures
- Severely reduced vision
- Retinal detachment
- Very flexible joints
- Waddling walk and loss of ability to walk
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in LRP5 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the LRP5 gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: ocular form of osteogenesis imperfecta; oppg; osteoporosis pseudoglioma syndrome; osteoporosis-pseudoglioma syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Osteoporosis with pseudoglioma.
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