Living with Coloboma of macula-brachydactyly type B syndrome
A rare condition from birth with eye changes, shaky eye movements, severe vision loss and short fingers and toes.
Understanding Coloboma of macula-brachydactyly type B syndrome
People have coloboma of the macula in both eyes, with side-to-side eye shaking (nystagmus) and severe vision loss. The hands and feet have shortened finger and toe bones, small or missing nails, broad or split thumbs and big toes, and some joined or bent digits.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Coloboma at the back of the eye
- Severe vision loss
- Short fingers and toes (brachydactyly type B)
- Small or missing nails
- Broad thumbs
- Fingers that stay bent (camptodactyly)
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 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
- 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 Prevent Blindness America
- 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
GARD says changes in genes cause this condition. It is inherited in an autosomal dominant pattern.
Also known as: apical dystrophy; coloboma of macula with brachydactyly type b syndrome; sorsby syndrome
Patient organizations
- Prevent Blindness AmericaColoboma of macula-brachydactyly type B syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Coloboma of macula-brachydactyly type B syndrome.
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