Living with Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
A rare genetic eye disease present from birth with optic nerve changes, macular thinning, shaky eye movements and poor vision.
Understanding Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
It involves gaps in the optic discs of both eyes and thinning of the macula, the center of the retina. People can also have thinning around the optic disc and gaps in the retina or iris. They have side-to-side eye shaking (nystagmus) and poor sharpness of vision. It starts in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor sharpness of vision
- Involuntary eye movements (nystagmus)
- Abnormally small eyeball (microphthalmia)
- Corneal scarring
- Glaucoma
- Retinal detachment
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 SIX6 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 SIX6 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: colobomatous optic disc, macular atrophy, chorioretinopathy syndrome; odrmd; optic disc anomalies with retinal and/or macular dystrophy
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 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome.
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