Living with Coloboma of macula
A rare genetic eye condition where a small area of the retina's center did not form fully, lowering vision.
Understanding Coloboma of macula
It causes well-defined, oval or round areas where the retina, choroid and sclera are thin or missing at the macula, usually in one eye. This leads to decreased vision and sometimes other symptoms such as strabismus. It is usually isolated but may be linked to Down syndrome, skeletal or kidney conditions.
Signs & symptoms
Symptoms vary from person to person. GARD describes these features:
- Decreased vision
- Eyes that do not line up (strabismus)
- Usually affects one eye
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: agenesis of macula; coloboma of the macula; congenital coloboma of macula lutea; hereditary macular coloboma (subtype); macular coloboma; macular pseudocoloboma
Patient organizations
- Prevent Blindness AmericaColoboma of macula · United States
You are more than your diagnosis
Perspectives from people navigating life with Coloboma of macula.
Explore research for Coloboma of macula
Explore actively recruiting Coloboma of macula studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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