Living with Coloboma of choroid and retina
A rare genetic eye condition present from birth where part of the back of the eye did not form fully, which can reduce vision.
Understanding Coloboma of choroid and retina
Some of the layers at the back of the eye are partly missing, most often in the lower inner part. People usually have reduced vision and a higher risk of retinal detachment. Other eye differences may also be present, or it may occur on its own.
Signs & symptoms
Symptoms vary from person to person. GARD describes these features:
- Reduced vision
- Higher risk of retinal detachment
- Coloboma of the iris
- Unusually small cornea (microcornea)
- Involuntary eye movements (nystagmus)
- Eyes that do not line up (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 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 and other patient organizations
- 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.
Patient organizations
- Prevent Blindness AmericaColoboma of choroid and retina · United States
- The Vision of Children FoundationColoboma of choroid and retina · United States
You are more than your diagnosis
Perspectives from people navigating life with Coloboma of choroid and retina.
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