Living with Coloboma of optic nerve
A rare genetic eye condition where the optic nerve disc has a bowl-shaped dip, often lowering vision.
Understanding Coloboma of optic nerve
The optic disc has a sharply defined, bowl-shaped dip. It can affect one or both eyes and usually reduces sharpness of vision to some degree. It may occur alone or with other eye problems, such as retinal detachment, or with kidney differences.
Signs & symptoms
Symptoms vary from person to person. GARD describes these features:
- Reduced sharpness of vision
- Can affect one or both eyes
- Retinal detachment in some people
- Kidney differences in some people
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.
- 3Consider genetic testing
Changes in PAX6 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
- 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
Changes in the PAX6 gene are listed. It is inherited in an autosomal dominant pattern.
Also known as: coloboma of optic disc; coloboma of optic nerve (disease); coloboma of optic papilla; congenital coloboma of optic disc; congenital coloboma of the optic nerve; congenital optic disc coloboma
Patient organizations
- Prevent Blindness AmericaColoboma of optic nerve · United States
- The Vision of Children FoundationColoboma of optic nerve · United States
You are more than your diagnosis
Perspectives from people navigating life with Coloboma of optic nerve.
Explore research for Coloboma of optic nerve
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