X-linked corneal dermoid

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:1661OMIM:304730Q13.4
Who is this for?
Show terms as
8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
Report missing data

Overview

X-linked corneal dermoid is a very rare eye condition that is present from birth. In this condition, a dermoid — a benign (non-cancerous) growth made up of skin-like tissue — develops on the cornea, which is the clear front surface of the eye. These growths can contain tissue such as skin, hair follicles, and fat, which are not normally found on the eye. Because the condition follows an X-linked inheritance pattern, it primarily affects males, while females may be carriers or show milder symptoms. The main concern with corneal dermoids is their effect on vision. Depending on the size and location of the growth, it can block or distort vision in the affected eye. This can lead to amblyopia (lazy eye) in children if not addressed early. Some patients may also experience eye irritation or cosmetic concerns due to the visible growth on the eye surface. Treatment typically involves surgical removal of the dermoid. The specific surgical approach depends on how deep the growth extends into the cornea. Superficial dermoids may be removed with a procedure called lamellar keratectomy, while deeper ones may require more complex surgery, sometimes including corneal transplantation. Early evaluation and management are important to preserve vision and prevent complications like amblyopia during the critical years of visual development in childhood.

Also known as:

Key symptoms:

White or yellowish growth on the surface of the eyeReduced vision in the affected eyeLazy eye (amblyopia)Astigmatism or irregular shape of the corneaEye irritation or discomfortTearing or watery eyesSensitivity to lightCosmetic difference in the appearance of the eyePossible hair-like fibers growing from the eye surface

Clinical phenotype terms (4)— hover any for plain English
Abnormal pupil morphologyHP:0000615
Inheritance

X-linked recessive

Carried on the X chromosome; typically affects males more than females

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for X-linked corneal dermoid.

View clinical trials →

No actively recruiting trials found for X-linked corneal dermoid at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the X-linked corneal dermoid community →

No specialists are currently listed for X-linked corneal dermoid.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to X-linked corneal dermoid.

Search all travel grants →NORD Financial Assistance ↗

Community

Open X-linked corneal dermoidForum →

No community posts yet. Be the first to share your experience with X-linked corneal dermoid.

Start the conversation →

Latest news about X-linked corneal dermoid

No recent news articles for X-linked corneal dermoid.

Follow this condition to be notified when news becomes available.

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.How deep is the dermoid, and what surgical approach do you recommend?,What are the risks and benefits of surgery at my child's current age?,Is there a risk of amblyopia, and how will we monitor and treat it?,Will my child need a corneal transplant, and what does that involve?,Should we pursue genetic testing, and what would it tell us?,Are other family members at risk of being carriers or affected?,What is the long-term vision outlook for my child after treatment?

Common questions about X-linked corneal dermoid

What is X-linked corneal dermoid?

X-linked corneal dermoid is a very rare eye condition that is present from birth. In this condition, a dermoid — a benign (non-cancerous) growth made up of skin-like tissue — develops on the cornea, which is the clear front surface of the eye. These growths can contain tissue such as skin, hair follicles, and fat, which are not normally found on the eye. Because the condition follows an X-linked inheritance pattern, it primarily affects males, while females may be carriers or show milder symptoms. The main concern with corneal dermoids is their effect on vision. Depending on the size and loca

How is X-linked corneal dermoid inherited?

X-linked corneal dermoid follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does X-linked corneal dermoid typically begin?

Typical onset of X-linked corneal dermoid is neonatal. Age of onset can vary across affected individuals.