Living with Colobomatous macrophthalmia-microcornea syndrome
A rare genetic eye condition with a small cornea, eye gaps (colobomas), long eyeballs and severe nearsightedness.
Understanding Colobomatous macrophthalmia-microcornea syndrome
People can have a small cornea, a gap in the iris or optic disc (coloboma), a longer-than-usual eyeball and severe nearsightedness. Some have higher eye pressure. It can affect one or both eyes, and it varies in how much of the eye is involved. Age at onset varies.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Nearsightedness (myopia)
- Small cornea (microcornea)
- Coloboma of the iris or optic disc
- Longer front-to-back eyeball
- Flat cornea
- Shallow front chamber of the 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.
- 3Consider genetic testing
Changes in CRIM1 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 CRIM1 gene are listed. It is inherited in an autosomal dominant pattern.
Also known as: colobomatous macrophthalmia with microcornea syndrome; macom (macrophthalmia colobomatous with microcornea) syndrome; macom syndrome; macrophthalmia, colobomatous, with microcornea
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 macrophthalmia-microcornea syndrome.
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