Living with Congenital cystic eye
A rare condition where a cyst grows in place of an eye because the eye did not develop properly during pregnancy.
Understanding Congenital cystic eye
It happens when the eye's early structure (the optic vesicle) does not develop properly in pregnancy. Sometimes the eye partly develops. The cyst is made of tissue lined with supportive nerve cell material. Usually only one eye is affected, and it may occur alone or with other eye problems.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes:
- Cyst in place of the eye
- Usually one eye affected
- Other eye differences in some
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.
- 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)
- 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
The eye (the optic vesicle) does not develop properly during pregnancy. GARD doesn't describe a specific gene.
Also known as: congenital anophthalmos with cyst; congenital cystic eyeball
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 Congenital cystic eye.
Explore research for Congenital cystic eye
Explore actively recruiting Congenital cystic eye studies with HealthSpark.
Find actively recruiting studies for Congenital cystic eye 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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