Living with Isolated congenital ectropion
A rare eye condition present from birth in which an eyelid edge turns outward, leaving part of the eye exposed.
Understanding Isolated congenital ectropion
It can affect one or both eyes, and the upper or lower lid. The eyelid edge turns out because there is not enough skin vertically. This exposes the lining of the eye (conjunctiva) and sometimes the cornea. In severe cases, people may have constant tearing (epiphora) and irritation of the cornea from exposure (exposure keratitis).
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these features:
- Eyelid edge turned outward
- Exposed lining of the eye (conjunctiva)
- Constant tearing in severe cases
- Cornea irritation from exposure in severe cases
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 (also called variants) cause this condition. It does not name specific genes or describe inheritance.
Also known as: nonsyndromic congenital ectropion
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 congenital ectropion.
Explore research for Isolated congenital ectropion
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