EDICT syndrome

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ORPHA:293936OMIM:614303H18.6
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Overview

EDICT syndrome is an extremely rare genetic eye condition. The name EDICT stands for Endothelial Dystrophy, Iris hypoplasia, Congenital cataract, and Stromal Thinning. This syndrome affects several parts of the front of the eye. People with EDICT syndrome are typically born with cloudy lenses in their eyes (congenital cataracts), an underdeveloped colored part of the eye (iris hypoplasia), problems with the inner lining of the cornea (endothelial dystrophy), and thinning of the corneal stroma (the main structural layer of the cornea). These combined eye problems can significantly affect vision from birth or early childhood. The condition is caused by a genetic change and tends to run in families. Because multiple structures in the front of the eye are affected, patients may experience progressive vision loss, sensitivity to light, and corneal swelling or cloudiness. Treatment is mainly focused on managing symptoms and preserving vision. This may include cataract surgery, corneal transplantation when the cornea becomes too cloudy or swollen, and corrective lenses. Because the condition is so rare, there are no large clinical trials or specific approved therapies. Management is individualized and typically involves a team of eye specialists who monitor the different components of the disease over time. Early diagnosis and regular follow-up are important to optimize visual outcomes.

Also known as:

Key symptoms:

Cloudy or opaque lenses present at birth (congenital cataracts)Underdeveloped or thin iris (the colored part of the eye)Corneal cloudiness or swellingThinning of the corneaSensitivity to lightReduced vision or blurry vision from early lifeCorneal edema (fluid buildup in the cornea)Abnormal cells lining the inner corneaProgressive worsening of corneal clarityPossible glaucoma (increased eye pressure)

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

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 EDICT syndrome.

View clinical trials →

No actively recruiting trials found for EDICT syndrome at this time.

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

Search ClinicalTrials.gov ↗Join the EDICT syndrome community →

No specialists are currently listed for EDICT syndrome.

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 EDICT syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about EDICT syndrome

No recent news articles for EDICT syndrome.

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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 severe is the corneal involvement, and will my child likely need a corneal transplant?,When is the best time to remove the cataracts, and what are the risks of surgery?,How often should eye exams be scheduled to monitor for changes?,Is there a risk of glaucoma, and how will it be monitored?,Should our family members be examined for signs of this condition?,What genetic testing is available, and should we pursue it?,What visual aids or school accommodations would you recommend?

Common questions about EDICT syndrome

What is EDICT syndrome?

EDICT syndrome is an extremely rare genetic eye condition. The name EDICT stands for Endothelial Dystrophy, Iris hypoplasia, Congenital cataract, and Stromal Thinning. This syndrome affects several parts of the front of the eye. People with EDICT syndrome are typically born with cloudy lenses in their eyes (congenital cataracts), an underdeveloped colored part of the eye (iris hypoplasia), problems with the inner lining of the cornea (endothelial dystrophy), and thinning of the corneal stroma (the main structural layer of the cornea). These combined eye problems can significantly affect vision

How is EDICT syndrome inherited?

EDICT syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does EDICT syndrome typically begin?

Typical onset of EDICT syndrome is neonatal. Age of onset can vary across affected individuals.