Living with Upper eyelid coloboma
A rare condition present at birth with a gap or notch in the upper eyelid, from small to complete absence.
Understanding Upper eyelid coloboma
It usually affects one eye. The gap can be a small notch or the whole eyelid missing, and it is often triangular and on the inner third of the lid. It can occur alone, along with other eye or face differences, or as part of a syndrome.
Signs & symptoms
GARD doesn't list a separate symptom list. The summary describes this main feature:
- Gap or notch in the upper eyelid
- Usually in one eye
- Often on the inner third of the lid
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 ear, nose, and throat specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists)
- Expert care
- Expert lists: World Craniofacial Foundation
- 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 and other patient organizations
- 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 doesn't describe a cause for this condition yet. It says it can occur alone, with other differences, or as part of a syndrome.
Also known as: cleft upper eyelid; coloboma of superior eyelid; coloboma of the upper eyelid; coloboma of upper eyelid; full thickness defect of the upper eyelid; notched upper eyelid
Patient organizations
- Prevent Blindness AmericaUpper eyelid coloboma · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Upper eyelid coloboma.
Explore research for Upper eyelid coloboma
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