Living with Ring dermoid of cornea
A rare genetic eye condition present from birth, with skin-like growths forming a ring at the edge of the clear front of the eye.
Understanding Ring dermoid of cornea
The growths (limbal dermoids) can extend onto the cornea and the conjunctiva. Fewer than 30 cases have been described. It is noticed in newborns and infants.
Signs & symptoms
GARD doesn't list specific symptoms for this condition. Its summary describes ring-shaped dermoid growths in the eye.
- Ring-shaped skin-like growths at the edge of the cornea
- Growth onto the cornea and the white of the eye
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 cancer specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in PITX2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Cancer specialists (oncologists); 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
It is inherited in an autosomal dominant way, so one changed copy of a gene can be enough. Changes in the PITX2 gene have been suggested as a possible cause.
Also known as: rdc; ring dermoid syndrome
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 Ring dermoid of cornea.
Explore research for Ring dermoid of cornea
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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