Aniridia

Title

Categories:

Eye diseases

Summary Summary

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. ^[1]^[2] 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.^[2] 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.^[2]

Last updated: 10/19/2016

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Aplasia/Hypoplasia of the iris	Very frequent (present in 80%-99% of cases)
Nystagmus	Very frequent (present in 80%-99% of cases)
Visual impairment	Very frequent (present in 80%-99% of cases)
Corneal erosion	Frequent (present in 30%-79% of cases)
Corneal neovascularization	Frequent (present in 30%-79% of cases)
Ectopia lentis	Frequent (present in 30%-79% of cases)
Glaucoma	Frequent (present in 30%-79% of cases)
Keratoconjunctivitis sicca	Frequent (present in 30%-79% of cases)
Macular hypopigmentation	Frequent (present in 30%-79% of cases)
Macular hypoplasia	Frequent (present in 30%-79% of cases)
Opacification of the corneal stroma	Frequent (present in 30%-79% of cases)
Optic nerve hypoplasia	Frequent (present in 30%-79% of cases)
Photophobia	Frequent (present in 30%-79% of cases)
Ptosis	Frequent (present in 30%-79% of cases)
Short palpebral fissure	Frequent (present in 30%-79% of cases)
Strabismus	Frequent (present in 30%-79% of cases)
Abnormality of the dentition	Occasional (present in 5%-29% of cases)
Abnormality of the genital system	Occasional (present in 5%-29% of cases)
Abnormality of the hypothalamus-pituitary axis	Occasional (present in 5%-29% of cases)
Abnormality of the sense of smell	Occasional (present in 5%-29% of cases)
Aplasia/Hypoplasia of the corpus callosum	Occasional (present in 5%-29% of cases)
Intellectual disability	Occasional (present in 5%-29% of cases)
Iris hypopigmentation	Occasional (present in 5%-29% of cases)
Keratoconus	Occasional (present in 5%-29% of cases)
Microcornea	Occasional (present in 5%-29% of cases)
Optic nerve coloboma	Occasional (present in 5%-29% of cases)
Sensorineural hearing impairment	Occasional (present in 5%-29% of cases)
Umbilical hernia	Occasional (present in 5%-29% of cases)
Aniridia	-
Autosomal dominant inheritance	-
Cataract	-
Hypoplasia of the fovea	-

Last updated: 10/1/2017

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Orphanet lists international laboratories offering diagnostic testing for this condition.

Treatment Treatment

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.^[1]^[2]

Last updated: 10/19/2016

Management Guidelines

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
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.

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied Aniridia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Aniridia Foundation International
c/o UVa Department of Ophthalmology
P.O. Box 800715
Charlottesville, VA 22908-0715
Website: http://www.aniridia.net

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Aniridia. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Aniridia. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new 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. See answer

Have a question? Contact a GARD Information Specialist.

References References

National LIbrary of Medicine. Aniridia. Genetics Home Reference. June 2009; http://ghr.nlm.nih.gov/condition/aniridia. Accessed 10/19/2016.
Hingorani M, Moore A. Aniridia. GeneReviews. November 14, 2103; http://www.ncbi.nlm.nih.gov/books/NBK1360/. Accessed 10/19/2016.

Do you know of a review article? Send us your suggestions.