Living with Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
A rare inherited syndrome with small ears, a gap in the eye tissue, and a blocked tear duct.
Understanding Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
GARD describes this syndrome as the combination of small ears (microtia), a gap in the eye tissue (coloboma), and a tear duct that did not open. It is autosomal dominant.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small ears (microtia)
- Gap in the colored part of the eye (iris coloboma)
- Blocked tear duct
- Sensitivity of the eyes to light
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 syndrome. It is autosomal dominant, which means a changed copy of the gene from one parent can be enough to cause it.
Also known as: balikova-vermeesch syndrome; microtia with nasolacrimal duct imperforation and eye coloboma
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 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome.
Explore research for Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Explore actively recruiting Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome studies with HealthSpark.
Find actively recruiting studies for Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.