Living with Irido-corneo-trabecular dysgenesis
An eye condition present from birth in which the front of the eye forms abnormally, causing a cloudy cornea and blurred vision.
Understanding Irido-corneo-trabecular dysgenesis
In Peters anomaly, the cornea (the clear cover of the eye) does not fully separate from the iris or lens. This leaves a cloudy spot that blurs vision. The spot can be small and faint or large and white. It usually affects both eyes, though vision may differ between them. It is noticed in newborns and infants. In some people the clouding improves over time.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cloudy cornea, often in the center
- Blurred or low vision
- Glaucoma (high pressure in the eye) that develops in childhood
- Clouding of the lens (cataract)
- Eyes that do not point the same way (strabismus)
- Lazy eye (amblyopia)
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 PAX6 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
Changes in the PAX6 gene are listed as a cause. It can be inherited in an autosomal dominant way (one changed copy is enough) or an autosomal recessive way (a changed copy from each parent).
Also known as: anterior segment dysgenesis 5; anterior segment dysgenesis 5, multiple subtypes; asgd5; peter's anomaly; peters anomaly; peters anomaly (disease)
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 Irido-corneo-trabecular dysgenesis.
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