Living with Anterior segment dysgenesis 4
A rare eye condition with unusually dark, smooth-looking irises, often with glaucoma.
Understanding Anterior segment dysgenesis 4
The irises are unusually dark and lack the usual pattern, so they look smooth. Brown irises look dark chocolate and blue irises look dark slate gray. GARD also lists glaucoma (high pressure in the eye), differences in the teeth, and a differently shaped face among the features.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Glaucoma (high pressure in the eye)
- Underdeveloped iris tissue
- Light-colored irises (iris hypopigmentation)
- Differences in the teeth
- Differences in face shape
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 PITX2 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: asgd4; irid2; iridogoniodysgenesis caused by mutation in pitx2; iridogoniodysgenesis syndrome; iridogoniodysgenesis, type 2; iris hypoplasia
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 Anterior segment dysgenesis 4.
Explore research for Anterior segment dysgenesis 4
Explore actively recruiting Anterior segment dysgenesis 4 studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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