What is aniridia?

Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris) and is usually associated with foveal hypoplasia (underdevelopment of the part of the eye responsible for sharp central vision). This combination can lead to decreased visual acuity and involuntary eye movements (nystagmus) in affected infants. People with aniridia may also have other eye problems including increased pressure in the eye (glaucoma), clouding of the lens of the eye (cataracts), and abnormalities of the cornea. Many of these eye problems contribute to progressive vision loss in affected individuals. Occasionally, people with aniridia have behavioral problems, developmental delay, and problems detecting odors. Aniridia may occur either as an isolated eye abnormality or as part of the Wilms tumor-aniridia-genital anomalies- retardation (WAGR) syndrome. Isolated aniridia may be caused by mutations in the PAX6 gene and is inherited in an autosomal dominant pattern.

Last updated on 05-01-20

Is prenatal diagnosis possible with aniridia?

Prenatal testing is available for pregnancies at increased risk for aniridia if the disease-causing mutation of an affected family member has been identified. Current clinically available testing can detect up 79.5% of mutation that cause isolated aniridia and 71% of mutations that cause WAGR syndrome. Detection rates, however, can potentially improve over time.

GeneTests lists the names of laboratories that are performing genetic testing for isolated aniridia and WAGR syndrome. To view the contact information for the clinical laboratories conducting testing, click the following hyperlinks: isolated aniridia and WAGR syndrome.

Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.

Last updated on 05-01-20

How might aniridia be treated?

In childhood, treatment for aniridia involves regular eye examinations and corrective lenses when necessary. Additional measures such as tinted lenses to reduce light sensitivity, low-vision aids, and the use of eye patches for amblyopia may be indicated. Children with Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome require regular renal ultrasounds, hearing tests, and evaluation by a pediatric oncologist. Additional treatment will depend on the specific symptoms present in each individual.

Last updated on 05-01-20

Management Guidelines

Rare Best Practices RareGUIDELINE

The Rare Best Practices RareGUIDELINE, funded by the European Union's Seventh Framework Programme, provides clinical practice guidelines for Aniridia. Guidelines on all aspects of care are included from diagnostic tests to treatment recommendations. Before you read the guideline, you can click on the " Guideline Evaluation " link to find out what others thought of the quality of the guideline.

Last updated on 04-27-20

Name: Aniridia Foundation International c/o UVa Department of Ophthalmology P.O. Box 800715
Charlottesville, VA, 22908-0715, United States

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