Aniridia

Common Name(s)

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).   Aniridia may occur either as an isolated eye abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome.

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.

Aniridia may be caused by mutations in the PAX6 gene and is inherited in an autosomal dominant pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Aniridia" for support, advocacy or research.

International WAGR Syndrome Association

Our mission is to promote international knowledge and awareness of WAGR syndrome and its complications and treatments, to stimulate research and to reach out to those affected by WAGR syndrome in an effort to improve their lives.

Last Updated: 12 Dec 2012

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Aniridia" for support, advocacy or research.

International WAGR Syndrome Association

Our mission is to promote international knowledge and awareness of WAGR syndrome and its complications and treatments, to stimulate research and to reach out to those affected by WAGR syndrome in an effort to improve their lives.

http://www.wagr.org

Last Updated: 12 Dec 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Aniridia" returned 105 free, full-text research articles on human participants. First 3 results:

In vivo morphology of the limbal palisades of vogt correlates with progressive stem cell deficiency in aniridia-related keratopathy.
 

Author(s): Neil Lagali, Ulla Edén, Tor Paaske Utheim, Xiangjun Chen, Ruth Riise, Anette Dellby, Per Fagerholm

Journal:

 

To investigate morphologic alterations in the limbal palisades of Vogt in a progressive form of limbal stem cell deficiency.

Last Updated: 8 Aug 2013

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Inherited KIF21A and PAX6 gene mutations in a boy with congenital fibrosis of extraocular muscles and aniridia.
 

Author(s): Ming Ying, Ruifang Han, Peng Hao, Liming Wang, Ningdong Li

Journal:

 

Mutations in the KIF21A gene are detected in the patients with congenital fibrosis of the extraocular muscles. Mutations in the PAX6 gene are detected in the patients with congenital aniridia.

Last Updated: 9 Jul 2013

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11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia.
 

Author(s): Anna Wawrocka, Agata Sikora, Lukasz Kuszel, Maciej R Krawczynski

Journal: J. Appl. Genet.. 2013 Aug;54(3):345-51.

 

Aniridia is a rare, bilateral, congenital ocular disorder causing incomplete formation of the iris, usually characterized by iris aplasia/hypoplasia. It can also appear with other ocular anomalies, such as cataracts, glaucoma, corneal pannus, optic nerve hypoplasia, macular hypoplasia, ...

Last Updated: 24 Jul 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Aniridia" returned 7 free, full-text review articles on human participants. First 3 results:

Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.
 

Author(s): Shipra Bhatia, Hemant Bengani, Margaret Fish, Alison Brown, Maria Teresa Divizia, Riccardo de Marco, Guiseppe Damante, Robert Grainger, Veronica van Heyningen, Dirk A Kleinjan

Journal: Am. J. Hum. Genet.. 2013 Dec;93(6):1126-34.

 

The strictly regulated expression of most pleiotropic developmental control genes is critically dependent on the activity of long-range cis-regulatory elements. This was revealed by the identification of individuals with a genetic condition lacking coding-region mutations in the gene ...

Last Updated: 9 Dec 2013

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Guidelines for genetic study of aniridia.
 

Author(s): F Blanco-Kelly, C Villaverde-Montero, I Lorda-Sánchez, J M Millán, M J Trujillo-Tiebas, C Ayuso

Journal: Arch Soc Esp Oftalmol. 2013 Apr;88(4):145-52.

 

Aniridia is a panocular disorder which occurs in 1/50,000 to 1/100,000 live births and can appear either in isolated form or in the context of a syndrome. Isolated aniridia is inherited as an autosomal dominant condition and is caused by mutations of the PAX6 gene. A variety of techniques ...

Last Updated: 19 Apr 2013

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Aniridia.
 

Author(s): Melanie Hingorani, Isabel Hanson, Veronica van Heyningen

Journal: Eur. J. Hum. Genet.. 2012 Oct;20(10):1011-7.

 

Aniridia is a rare congenital disorder in which there is a variable degree of hypoplasia or the absence of iris tissue associated with multiple other ocular changes, some present from birth and some arising progressively over time. Most cases are associated with dominantly inherited ...

Last Updated: 20 Sep 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 14 Aug 2012

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Last Updated: 12 May 2014

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Safety and Effectiveness of the CustomFlex Artificial Iris Prosthesis for the Treatment of Iris Defects
 

Status: Recruiting

Condition Summary: Full Aniridia; Partial Aniridia

 

Last Updated: 7 Jul 2014

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