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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Aplasia/Hypoplasia of the iris	Absent/small iris Absent/underdeveloped iris [ more ]	0008053
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505
30%-79% of people have these symptoms
Corneal erosion		0200020
Corneal neovascularization	New blood vessel formation in cornea	0011496
Ectopia lentis		0001083
Glaucoma		0000501
Keratoconjunctivitis sicca	Dry eyes	0001097
Macular hypopigmentation		0007988
Macular hypoplasia		0001104
Opacification of the corneal stroma		0007759
Optic nerve hypoplasia		0000609
Photophobia	Extreme sensitivity of the eyes to light Light hypersensitivity [ more ]	0000613
Ptosis	Drooping upper eyelid	0000508
Short palpebral fissure	Short opening between the eyelids	0012745
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
5%-29% of people have these symptoms
Abnormality of the dentition	Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality [ more ]	0000164
Abnormality of the genital system	Genital abnormalities Genital abnormality Genital anomalies Genital defects [ more ]	0000078
Abnormality of the hypothalamus-pituitary axis		0000864
Abnormality of the sense of smell	Abnormal sense of smell Smell defect [ more ]	0004408
Aplasia/Hypoplasia of the corpus callosum		0007370
Global developmental delay		0001263
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Iris hypopigmentation		0007730
Keratoconus	Bulging cornea	0000563
Microcornea		0000482
Optic nerve coloboma		0000588
Polymicrogyria		0002126
Sensorineural hearing impairment		0000407
Umbilical hernia		0001537
Percent of people who have these symptoms is not available through HPO
Aniridia	Absent iris	0000526
Autosomal dominant inheritance		0000006
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Hypoplasia of the corpus callosum		0002079
Hypoplasia of the fovea		0007750

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2018

Do you have updated information on this disease? We want to hear from you.

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

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.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare 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 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.

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 related to 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? We want to hear from you.

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

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.
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

NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

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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

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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.

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