National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Peters anomaly


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Peters anomaly is a disorder of the eye which involves thinning and clouding of the cornea and attachment of the iris to the cornea, which causes blurred vision. It may also be associated with clouding of the lens of the eye (cataracts) or other lens abnormalities.[1] The cause of Peters anomaly is unknown; it may be caused by genetic factors (including alterations of several genes, like the FOXC1, PAX6, PITX2, or CYP1B1 genes, environmental factors, or both. The critical event must occur in the first trimester of pregnancy during the formation of the anterior chamber. Most cases of Peters anomaly are sporadic or inherited in an autosomal recessive pattern. Some few cases might be inherited in an autosomal dominant pattern.[2] Peters anomaly may occur as an isolated ocular abnormality or in association with other ocular defects. Peters anomaly is a feature of the Krause-Kivlin syndrome and the Peters-plus syndrome.[3] Treatment depends on the problems that the patient has and may include glaucoma treatment or surgery to correct the cataracts or other lens abnormalities.[2]
Last updated: 9/11/2015

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
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HPO ID
100% of people have these symptoms
Peters anomaly 0000659
80%-99% of people have these symptoms
Anterior synechiae of the anterior chamber 0011483
Central opacification of the cornea 0011493
Corneal opacity 0007957
Subcapsular cataract 0000523
Thinning of Descemet membrane 0031159
30%-79% of people have these symptoms
Developmental glaucoma 0001087
1%-4% of people have these symptoms
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
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Last updated: 7/1/2020
While the exact cause of Peters anomaly is not known, the critical event is believed to occur in the first trimester of pregnancy, during the formation of the anterior chamber (the front part of the eye). Genetic and environmental factors may play a role.[2] Some cases of Peters anomaly have been tied to mutation in the PAX6 gene, the PITX2 gene, the CYP1B1 gene, or the FOXC1 gene.[3] These genes are all members of a family called homeobox genes that direct the formation of many parts of the body, like the anterior segment of the eye and mutations can lead to severe developmental problems, such as incomplete separation of eye structures and complete corneal opacity, or they can result in minor eye abnormalities including small, faint opacities. It is likely that mutations that cause a complete absence of protein function result in the most severe eye problems. In many cases of Peters anomaly, there is no mutation identified in any of these four genes. The cause of the condition in these cases is unknown.[1]
Last updated: 9/11/2015
Most cases of Peters anomaly are sporadic or autosomal recessive, but autosomal dominant transmission has been reported.[3][2]
Last updated: 9/11/2015

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.

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

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 Peters anomaly. 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.

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

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.

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 have one child with Peters anomaly. What causes this condition? Is it inherited? See answer


  1. Peters anomaly. Genetics Home Reference. January, 2014; http://ghr.nlm.nih.gov/condition/peters-anomaly. Accessed 9/11/2015.
  2. Arunagiri G. Peters Anomaly. Medscape Reference. November 14, 2014; http://emedicine.medscape.com/article/1200372-overview. Accessed 9/11/2015.
  3. Peters Anomaly. Online Mendelian Inheritance in Man (OMIM). April 26, 2013; http://omim.org/entry/604229.