Living with X-linked corneal dermoid
An extremely rare, benign growth that clouds the cornea in both eyes from birth.
Understanding X-linked corneal dermoid
It clouds the cornea in both eyes with grayish layers, raised whitish plaques, and fine blood vessels over the center, while the edges stay intact. GARD says no other eye or body problem is noted. The pattern in the affected family fits X-linked inheritance.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Clouding of the cornea in both eyes
- Reduced vision
- Pupil differences
- Whitish raised plaques on the cornea
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 (variants) cause this condition, and the family pattern fits X-linked inheritance. It doesn't name a gene.
Also known as: corneal dystrophy epithelial-short stature syndrome; guízar vázquez luengas muñoz syndrome; guízar vázquez-luengas-muñoz 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 X-linked corneal dermoid.
Explore research for X-linked corneal dermoid
Explore actively recruiting X-linked corneal dermoid studies with HealthSpark.
Find actively recruiting studies for X-linked corneal dermoid 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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