Overview
Aniridia is a rare eye condition in which the iris — the colored ring around the pupil — is partly or completely missing from birth. The name literally means 'without iris.' Because the iris controls how much light enters the eye, people with aniridia are often very sensitive to bright light and may have reduced vision. Although the missing iris is the most obvious feature, aniridia actually affects many parts of the eye. Over time, it can lead to other eye problems such as glaucoma (high pressure inside the eye), cataracts (clouding of the lens), corneal surface disease (called aniridia-related keratopathy), and underdevelopment of the central part of the retina (foveal hypoplasia), which is a major reason vision is reduced. Aniridia is usually caused by changes (mutations) in the PAX6 gene, which plays a key role in eye development before birth. About two-thirds of cases are inherited from a parent, while about one-third occur as new mutations with no family history. In a small number of sporadic cases, aniridia can be part of a broader condition called WAGR syndrome, which also involves kidney tumors (Wilms tumor), genital abnormalities, and intellectual disability. Treatment focuses on managing complications — there is no cure for aniridia itself. Regular eye exams are essential to catch and treat glaucoma, cataracts, and corneal problems early. Artificial iris devices, tinted contact lenses, and low-vision aids can help with light sensitivity and visual function. Research into gene therapy and stem cell treatments is ongoing and offers hope for the future.
Key symptoms:
Absent or underdeveloped iris (the colored part of the eye)Extreme sensitivity to bright light (photophobia)Reduced vision from birthInvoluntary eye movements (nystagmus)Glaucoma (high eye pressure)Cataracts (cloudy lens)Clouding or scarring of the cornea (front surface of the eye)Underdevelopment of the center of the retina (foveal hypoplasia)Drooping eyelid (ptosis) in some casesDry eye symptomsDifficulty seeing fine detailsProblems with depth perception
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Aniridia.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Aniridia.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to OBSOLETE: Aniridia.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Does my child need genetic testing to check for WAGR syndrome and Wilms tumor risk?,How often should eye exams be scheduled, and what specifically will be monitored?,What are the early signs of glaucoma I should watch for at home?,Are there low-vision services or educational resources you can refer us to?,Would an artificial iris implant be appropriate now or in the future?,Are there any clinical trials or new treatments for aniridia that we should know about?,What can we do to slow down or prevent corneal surface disease?
Common questions about OBSOLETE: Aniridia
What is OBSOLETE: Aniridia?
Aniridia is a rare eye condition in which the iris — the colored ring around the pupil — is partly or completely missing from birth. The name literally means 'without iris.' Because the iris controls how much light enters the eye, people with aniridia are often very sensitive to bright light and may have reduced vision. Although the missing iris is the most obvious feature, aniridia actually affects many parts of the eye. Over time, it can lead to other eye problems such as glaucoma (high pressure inside the eye), cataracts (clouding of the lens), corneal surface disease (called aniridia-relat
How is OBSOLETE: Aniridia inherited?
OBSOLETE: Aniridia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Aniridia typically begin?
Typical onset of OBSOLETE: Aniridia is neonatal. Age of onset can vary across affected individuals.