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Living with Isolated aniridia

An eye condition present from birth in which the iris, the colored part of the eye, is partly or fully missing, often with other vision problems.

Understanding Isolated aniridia

Isolated aniridia is an eye condition present from birth in which the iris is completely or partly missing in both eyes.

It affects both eyes and is seen at birth. Besides the missing iris, many people have other eye differences such as an underdeveloped center of the retina, cataracts, and glaucoma. Vision is often less clear.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Missing or partly missing iris (aniridia)
  • Less clear vision
  • Clouding of the lens (cataract)
  • Glaucoma
  • Quick, rhythmic eye movements (nystagmus)
  • Eyes that do not point the same way (strabismus)

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include eye disease specialists and genetic specialists.

  3. Ask 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 Aniridia Foundation International
  • 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
Bring these questions to your next doctor visit
Can genetic testing find the gene change in my family?
How often should we check for cataracts and glaucoma?
What can help with light sensitivity and low vision?

Quick facts

Symptoms usually startNewborn
InheritanceAutosomal Dominant

GARD says changes in genes cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough to cause it.

Genetic

Also known as: nonsyndromic aniridia

Patient organizations

Source: NIH GARD · Isolated aniridiaGARD ID 5816 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Isolated aniridia.

Explore the Isolated aniridia blog

Explore research for Isolated aniridia

Explore actively recruiting Isolated aniridia studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Isolated aniridia 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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