Living with Rieger anomaly
A rare genetic eye condition present at birth that affects the front part of the eye, including the iris and pupil.
Understanding Rieger anomaly
It causes changes to the iris (the colored part of the eye) and the pupil, including thinning of the iris, holes or false holes in it, and an off-center pupil. It also includes the features of Axenfeld's anomaly. It is present from birth.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these:
- Thinning of the iris
- Holes or false holes in the iris
- Off-center pupil (corectopia)
- Strands in the front chamber of the eye
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 lists autosomal dominant inheritance, so one changed copy of a gene can be enough. It does not name a gene in this record.
Also known as: goniodysgenesis hypodontia; iridogoniodysgenesis with somatic anomalies; rieg; rieger syndrome; rieger's 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 Rieger anomaly.
Explore research for Rieger anomaly
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- Recruiting studies from ClinicalTrials.gov
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- 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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