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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Your Question

I'm doing a research paper on aniridia and am wondering if there is a prenatal diagnosis for this disease or if that are any new advances in treatment. Any current information regarding this disease would be helpful.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is aniridia?

Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).[1]  Aniridia may occur either as an isolated eye abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome.[2]

People with aniridia can also have other eye problems including increased pressure in the eye (glaucoma), clouding of the lens of the eye (cataracts), or underdevelopment of the structures that carry information from the eyes to the brain (optic nerves).  Individuals with aniridia may also have involuntary eye movements (nystagmus) or underdevelopment of the region at the back of the eye responsible for sharp central vision (foveal hypoplasia). Many of these eye problems contribute to progressive vision loss in affected individuals. The severity of symptoms is typically the same in both eyes.  Rarely, people with aniridia have behavioral problems, developmental delay, and problems detecting odors.[1]

Aniridia may be caused by mutations in the PAX6 gene and is inherited in an autosomal dominant pattern.[1]
Last updated: 6/6/2011

How might aniridia be treated?

In childhood, treatment for aniridia focuses on regular eye examinations including necessary corrective lenses, tinted lenses to reduce light sensitivity, and occlusion therapy to address vision abnormalities. Children with Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome require regular renal ultrasounds, hearing tests and evaluation by a pediatric oncologist.[2][1]  Additional treatment is adapted to each individual depending on the associated complications.[3]
Last updated: 6/6/2011

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. [2]  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: 6/6/2011

References