Living with Eyelid coloboma
A rare eye difference in which part of an eyelid is missing, from a small notch to the whole lid.
Understanding Eyelid coloboma
It may affect one or both eyes, and the upper or lower lid. The gap can range from a small notch to a missing lid. It can leave the clear front of the eye unprotected, which may harm vision. It may occur alone, with other eye differences, or as part of a syndrome such as Treacher Collins or Goldenhar syndrome.
Signs & symptoms
GARD describes this feature in its summary:
- A notch or gap in the edge of the eyelid
- An unprotected front of the eye
- Possible vision problems
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 Prevent Blindness America
- 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 cause this condition. GARD does not name a specific gene.
Also known as: cleft eyelid; coloboma of eyelid; coloboma of lid; coloboma of the eyelid; coloboma palpebrale; congenital notching of palpebral fissure
Patient organizations
- Prevent Blindness AmericaEyelid coloboma · United States
You are more than your diagnosis
Perspectives from people navigating life with Eyelid coloboma.
Explore research for Eyelid coloboma
Explore actively recruiting Eyelid coloboma studies with HealthSpark.
Find actively recruiting studies for Eyelid coloboma 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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