Living with Familial cavitary optic disk anomaly
A rare inherited eye condition in which the optic nerve head has a deep hollow, which can reduce the field of vision.
Understanding Familial cavitary optic disk anomaly
It is present from birth, usually in both eyes, and may worsen with time. The field of vision shrinks, without raised eye pressure. Some people develop a detachment under the macula (the center of the retina), with serious vision loss. It is usually noticed in the teen years or adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD's summary describes:
- Reduced field of vision
- Blurry vision
- Night blindness
- Vision loss if the macula detaches
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 MMP19 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 rare disease patient organizations for support
- 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 MMP19 gene cause this condition. It is autosomal dominant, which means a change in one copy of the gene can cause it.
Also known as: cavitary optic disc anomalies; cavitary optic disc anomaly; familial cavitary optic disc anomaly; familial coda; familial coda (cavitary optic disc anomaly)
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial cavitary optic disk anomaly.
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