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Disease Profile

Peters anomaly

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q13.4

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Categories

Eye diseases

Summary

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]

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.

Medical Terms Other Names
Learn More:
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
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 dominant inheritance
0000006
Developmental cataract
Clouding of the lens of the eye at birth
0000519
Glaucoma
0000501
Hypoplasia of the fovea
0007750
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Microphthalmia
Abnormally small eyeball
0000568
Posterior embryotoxon
0000627
Reduced visual acuity
Decreased clarity of vision
0007663
Rieger anomaly
0000558
Sclerocornea
Hardening of skin and connective tissue
0000647

Cause

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]

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.

    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 Providing General Support

      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

      • MedlinePlus Genetics contains information on Peters anomaly. This website is maintained by the National Library of Medicine.

        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.

          References

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

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