Living with Blindness - scoliosis - arachnodactyly syndrome
A rare genetic syndrome with vision loss that gets worse, curved spine, and long thin fingers and toes.
Understanding Blindness - scoliosis - arachnodactyly syndrome
Signs start in childhood or the teen years. Eye findings can include cloudy lens (cataract), a partly shifted lens, retinal changes, and crossed eyes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Vision loss that worsens over time
- Curved spine (scoliosis)
- Long, slender fingers and toes (arachnodactyly)
- Cloudy lens (cataract)
- Lens partly out of place
- Crossed eyes (strabismus)
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 autoimmune and inflammatory disease specialists, bone and joint specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); 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 National Scoliosis Foundation
- 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 genes cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: blindness-scoliosis-arachnodactyly syndrome; scoliosis, arachnodactyly, and blindness
Patient organizations
- National Scoliosis FoundationBlindness - scoliosis - arachnodactyly syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Blindness - scoliosis - arachnodactyly syndrome.
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