Living with Microphthalmia, isolated, with coloboma
A rare eye condition with small eyes in one or both eyes and gaps in the eye tissue called coloboma.
Understanding Microphthalmia, isolated, with coloboma
GARD describes colobomatous microphthalmia as a developmental condition of the eye. It involves smaller-than-usual eyes (microphthalmia) in one or both eyes along with coloboma. Signs are seen during pregnancy or in the newborn period. It can be passed down in more than one way.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
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 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 genes (also called variants) cause this condition. It can be autosomal dominant (a changed copy from one parent is enough) or autosomal recessive (a changed copy from each parent).
Also known as: colobomatous microphthalmia; mac; microphthalmia with colobomatous cyst; microphthalmia-anophthalmia-coloboma syndrome
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 Microphthalmia, isolated, with coloboma.
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