Living with Hereditary benign intraepithelial dyskeratosis
A rare inherited condition that causes white plaques on the eye surface and inside the mouth.
Understanding Hereditary benign intraepithelial dyskeratosis
Plaques form on the white of the eye (sometimes spreading to the cornea) and inside the mouth, with enlarged red blood vessels in the eye. GARD says it was seen mainly in people with Haliwa-Saponi Native American ancestry. Some people have no symptoms. Others have eye itching, scarring of the cornea, tearing, light sensitivity, and vision loss from cloudy corneas. It starts in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these as less common:
- White plaques on the eye and in the mouth
- Red eyes
- Eye itching
- Sensitivity to light
- Tearing
- Vision loss from cloudy corneas
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 (also called variants) cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: hbid; hereditary benign corneal intraepithelial dyskeratosis; witkop-von sallman syndrome; witkop-von sallmann disease
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 Hereditary benign intraepithelial dyskeratosis.
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