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Disease Profile

Wagner syndrome

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

Childhood

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ICD-10

H35.5

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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Other names (AKA)

Wagner syndrome type 1; Wagner vitreoretinal degeneration; Hyaloideoretinal degeneration of Wagner;

Categories

Congenital and Genetic Diseases; Eye diseases

Summary

Wagner syndrome is a hereditary eye disorder that leads to progressive vision loss. It is characterized by changes to the thick, clear gel that fills the eyeball (the vitrous), in which it becomes thin and watery and appears empty.[1] The first signs and symptoms usually appear in childhood, but onset may be as early as age 2. Signs and symptoms may include: thinning of the light-sensitive tissue that lines the back of the eye (retinal detachment), abnormalities of the blood vessels within the retina (known as the choroid), and degeneration of the retina and choroid. Wagner syndrome is caused by mutations in the VCAN gene and is inherited in an autosomal dominant manner.[1][2] Treatment varies depending on the signs and symptoms in each individual and may include the use of glasses or contact lenses and vitreoretinal surgery.[2][3]

Symptoms

The signs and symptoms of Wagner syndrome vary from person to person.[3][4] The most distinctive feature affects the vitreous. In individuals with Wagner syndrome, the vitreous appears to be empty with just a concentration of vitreous around the inside of the eyeball, which is often lined with cord-like structures.[2][3][4] This unusual finding can be found even in young children.[4] This primary symptom can lead to many secondary features which include:[1][2][4]

  • Early cataracts (before age 40)
  • Degeneration and atrophy of the retina, the underlying retinal pigment epithelium (RPE), and the choroid
  • Retinal detachment
  • Nearsightedness (myopia)
  • Night blindness
  • Visual field restriction

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
5%-29% of people have these symptoms
Exudative vitreoretinopathy
0030490
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Chorioretinal atrophy
0000533
Glaucoma
0000501
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

0000545
Optic atrophy
0000648
Optically empty vitreous
0030663
Peripheral tractional retinal detachment
0007643
Retinal pigment epithelial atrophy
0007722
Visual field defect
Partial loss of field of vision
0001123
Visual loss
Loss of vision
Vision loss

[ more ]

0000572
Vitreoretinopathy
0007773

Cause

Wagner syndrome is caused by mutations in the VCAN gene.[1][2] This gene provides instructions for a protein called versican, which is a major component of the extracellular matrix (the material that surrounds and supports cells). The versican protein is involved in cell adhesion, proliferation, migration (movement), and angiogenesis (the formation of new blood vessels). It plays a central role in tissue morphogenesis and maintenance.[1][5] Within the eye, versican interacts with other proteins to maintain the structure and gel-like consistency of the vitreous.[1]

VCAN gene mutations that cause Wagner syndrome are thought to lead to insufficient levels of versican in the vitreous and structural instability. This lack of stability in the vitreous affects other areas of the eye and contributes to the vision problems that occur in people with Wagner syndrome.[1]

Diagnosis

The diagnosis of Wagner syndrome is based on typical clinical findings and family history of the condition. Genetic testing of the VCAN gene is available and can be used to confirm the diagnosis.[2]

 

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.

    Treatment

    There is no cure for Wagner syndrome, but there may be ways to manage the symptoms. Refractive errors (such as myopia) can be corrected by glasses or contact lenses. Cataracts should be removed via standard protocols by an experienced eye care professional. Retinal breaks can be treated with laser retinopexy (gas bubble placement) or cryotherapy (use of subzero temperatures to treat tissue damage). All individuals with Wagner syndrome should be seen yearly a vitreoretinal specialist for an ophthalmologic evaluation.[2][4] 

    More information about the management of Wagner syndrome can be found through the Wagner Syndrome Website.

    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

      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

        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.
        • 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 Wagner syndrome. Click on the link to view a sample search on this topic.

          References

          1. Wagner syndrome. Genetics Home Reference. July 2014; https://ghr.nlm.nih.gov/condition/wagner-syndrome.
          2. Kloeckener-Gruissem B, Amstutz C. VCAN-Related Vitreoretinopathy. GeneReviews. January 7, 2016; https://www.ncbi.nlm.nih.gov/books/NBK3821/.
          3. Amstutz C. Wagner disease. Orphanet. July 2010; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=898.
          4. Wagner Syndrome. Wagner Syndrome Website. February 25, 2010; https://www.wagnersyndrome.eu/wagnersyndrome/wagner.html.
          5. VCAN. Genetics Home Reference (GHR). 2009; https://ghr.nlm.nih.gov/gene=vcan. Accessed 12/7/2009.

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