Living with EDICT syndrome
A rare inherited eye condition with early cataracts, thin corneas, a bulging cornea (keratoconus), and an underdeveloped iris.
Understanding EDICT syndrome
The name describes its features: early-onset cataracts, corneal stromal thinning, early-onset keratoconus (a bulging cornea), corneal endothelial dystrophy, and iris hypoplasia (an underdeveloped iris). It begins between birth and childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cloudiness on the front of the lens (anterior polar cataract)
- Bulging, cone-shaped cornea (keratoconus)
- Small cornea (microcornea)
- Underdeveloped iris
- Blurred vision
- Astigmatism
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.
- 3Consider genetic testing
Changes in MIR184 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
- 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 the MIR184 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: autosomal dominant keratoconus with early-onset anterior polar cataract; autosomal dominant keratoconus with early-onset anterior polar cataracts; edict; edict (endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning) syndrome; endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome; endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning 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 EDICT syndrome.
Explore research for EDICT syndrome
Explore actively recruiting EDICT syndrome studies with HealthSpark.
Find actively recruiting studies for EDICT syndrome 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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