Living with Isolated anophthalmia-microphthalmia syndrome
A group of eye development conditions present at birth with missing or very small eyes or a gap in the eye, without other body problems.
Understanding Isolated anophthalmia-microphthalmia syndrome
It can include very small eyes (microphthalmia), a gap in part of the eye (coloboma), or a missing eye (anophthalmia), in one or both eyes. There are no other eye conditions in the affected or other eye and no problems in other body systems. It starts during pregnancy and is seen at birth.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these features:
- Very small eye (microphthalmia)
- Gap in part of the eye (coloboma)
- Missing eye (anophthalmia)
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
GARD says changes in genes cause this condition. It can be inherited in autosomal dominant, autosomal recessive, or X-linked ways.
Also known as: isolated microphthalmia-anophthalmia-coloboma; mac spectrum; microphthalmia-anophthalmia-coloboma spectrum; nonsyndromic anophthalmia-microphthalmia 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 Isolated anophthalmia-microphthalmia syndrome.
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