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Wagner syndrome

Reviewed January 2010

What is Wagner syndrome?

Wagner syndrome is a hereditary disorder that causes progressive vision loss. Loss of vision usually begins in adulthood, although some individuals are affected in adolescence. Vision progressively worsens with age.

In people with Wagner syndrome, the light-sensitive tissue that lines the back of the eye (the retina) becomes thin and may separate from the back of the eye (retinal detachment). The blood vessels within the retina may also be abnormal. Additionally, the thick, clear gel that fills the eyeball (the vitreous) becomes watery and thin (vitreous degeneration). Some people with Wagner syndrome have blurred vision because of ectopic fovea, an abnormality in which the part of the retina responsible for sharp central vision is out of place. Affected individuals may also experience nearsightedness (myopia) or a clouding of the lens of the eye (cataract).

A condition called erosive vitreoretinopathy is very similar to Wagner syndrome. In addition to the signs and symptoms of Wagner syndrome, people with erosive vitreoretinopathy experience progressive night blindness and a narrowing of their field of vision. Recent research indicates that erosive vitreoretinopathy is likely a variant of Wagner syndrome.

How common is Wagner syndrome?

Wagner syndrome is a rare disorder, although its exact prevalence is unknown. Approximately 50 families affected by the disorder have been identified worldwide.

What genes are related to Wagner syndrome?

Mutations in the VCAN gene cause Wagner syndrome. The VCAN gene provides instructions for making a protein called versican. Versican is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Versican interacts with many of these proteins and molecules to facilitate the assembly of the extracellular matrix and ensure its stability. Within the eye, versican is found in the vitreous, where it interacts with other proteins to maintain the structure and gel-like consistency of the vitreous.

VCAN gene mutations that cause Wagner syndrome lead to insufficient levels of versican in the vitreous. Without enough versican to interact with the many proteins of the vitreous, the structure becomes unstable. This lack of stability in the vitreous affects other areas of the eye and contributes to the vision problems in people with Wagner syndrome.

Mutations in the VCAN gene cause erosive vitreoretinopathy as well. It is unknown why VCAN gene mutations seem solely to affect vision.

Related Gene(s)

Changes in this gene are associated with Wagner syndrome.

  • VCAN

How do people inherit Wagner syndrome?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In most cases, an affected person has one parent with the condition.

Where can I find information about diagnosis or management of Wagner syndrome?

These resources address the diagnosis or management of Wagner syndrome and may include treatment providers.

  • Gene Review: VCAN-Related Vitreoretinopathy (http://www.ncbi.nlm.nih.gov/books/NBK3821/)
  • Genetic Testing Registry: Wagner syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0339540)

You might also find information on the diagnosis or management of Wagner syndrome in Educational resources (http://ghr.nlm.nih.gov/condition/wagner-syndrome/show/Educational+resources) and Patient support (http://ghr.nlm.nih.gov/condition/wagner-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Wagner syndrome?

You may find the following resources about Wagner syndrome helpful. These materials are written for the general public.

  • MedlinePlus - Health information

    • Health Topic: Cataract (http://www.nlm.nih.gov/medlineplus/cataract.html)
    • Health Topic: Retinal Disorders (http://www.nlm.nih.gov/medlineplus/retinaldisorders.html)
    • Health Topic: Vision Impairment and Blindness (http://www.nlm.nih.gov/medlineplus/visionimpairmentandblindness.html)
  • Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases (http://rarediseases.info.nih.gov/gard/7871/resources/resources/1)

  • Additional NIH Resources - National Institutes of Health

    • National Eye Institute: Diagram of the Eye (http://www.nei.nih.gov/health/eyediagram/index.asp)
    • National Eye Institute: Low Vision (http://www.nei.nih.gov/health/lowvision/)

  • Educational resources - Information pages

    • Centers for Disease Control and Prevention: Vision Impairment (http://www.cdc.gov/ncbddd/actearly/pdf/parents_pdfs/VisionLossFactSheet.pdf)
    • Children's Hospital Boston: Vision Problems (http://www.childrenshospital.org/az/Site1486/mainpageS1486P0.html)
    • Cleveland Clinic: Cataracts and Cataract Surgery (http://my.clevelandclinic.org/disorders/Cataracts/hic_Cataracts_and_Cataract_Surgery.aspx)
    • Cleveland Clinic: Coping with Vision Loss (http://my.clevelandclinic.org/disorders/Vision/hic_Coping_with_Vision_Loss.aspx)
    • Mayo Clinic: Retinal Diseases (http://www.mayoclinic.org/retinal-diseases/)
    • Merck Manual Home Edition for Patients and Caregivers: Overview of Retinal Disorders (http://www.merckmanuals.com/home/eye_disorders/retinal_disorders/overview_of_retinal_disorders.html)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=898)

  • Patient support - For patients and families

    • American Foundation for the Blind (http://www.afb.org/)
    • Family Village: Blind/Visual Impairment (http://www.familyvillage.wisc.edu/lib_blnd.htm)
    • Lighthouse International (http://www.lighthouse.org/)
    • Prevent Blindness America (http://www.preventblindness.org/)
    • Retina International (http://www.retina-international.org/)
    • The Foundation Fighting Blindness (http://www.ffb.ca/index.html)
    • University of Kansas Medical Center Resource List: Blind/Visual Impairment (http://www.kumc.edu/gec/support/visual.html)
    • Wagner Syndrome (the Netherlands) (http://www.wagnersyndrome.eu/)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK3821/)

  • Genetic Testing Registry - Repository of genetic test information

    • Genetic Testing Registry: Wagner syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0339540)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((wagner%20syndrome%5BTIAB%5D)%20OR%20(wagner%20disease%5BTIAB%5D)%20NOT%20(Stickler%5BTI%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/143200)

What other names do people use for Wagner syndrome?

  • hyaloideoretinal degeneration of Wagner
  • VCAN-related vitreoretinopathy
  • Wagner disease
  • Wagner vitreoretinal degeneration

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Wagner syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Wagner syndrome?

autosomal ; autosomal dominant ; cataract ; cell ; ectopic ; extracellular ; extracellular matrix ; fovea ; gene ; myopia ; nearsightedness ; prevalence ; protein ; retina ; syndrome ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Gene Review: VCAN-Related Vitreoretinopathy (http://www.ncbi.nlm.nih.gov/books/NBK3821/)
  • Kloeckener-Gruissem B, Bartholdi D, Abdou MT, Zimmermann DR, Berger W. Identification of the genetic defect in the original Wagner syndrome family. Mol Vis. 2006 Apr 17;12:350-5. (http://www.ncbi.nlm.nih.gov/pubmed/16636652?dopt=Abstract)
  • Meredith SP, Richards AJ, Flanagan DW, Scott JD, Poulson AV, Snead MP. Clinical characterisation and molecular analysis of Wagner syndrome. Br J Ophthalmol. 2007 May;91(5):655-9. Epub 2006 Oct 11. (http://www.ncbi.nlm.nih.gov/pubmed/17035272?dopt=Abstract)
  • Miyamoto T, Inoue H, Sakamoto Y, Kudo E, Naito T, Mikawa T, Mikawa Y, Isashiki Y, Osabe D, Shinohara S, Shiota H, Itakura M. Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome. Invest Ophthalmol Vis Sci. 2005 Aug;46(8):2726-35. (http://www.ncbi.nlm.nih.gov/pubmed/16043844?dopt=Abstract)
  • Mukhopadhyay A, Nikopoulos K, Maugeri A, de Brouwer AP, van Nouhuys CE, Boon CJ, Perveen R, Zegers HA, Wittebol-Post D, van den Biesen PR, van der Velde-Visser SD, Brunner HG, Black GC, Hoyng CB, Cremers FP. Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants. Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3565-72. (http://www.ncbi.nlm.nih.gov/pubmed/16877430?dopt=Abstract)
  • OMIM: WAGNER VITREORETINOPATHY (http://omim.org/entry/143200)
  • Ronan SM, Tran-Viet KN, Burner EL, Metlapally R, Toth CA, Young TL. Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome. Arch Ophthalmol. 2009 Nov;127(11):1511-9. doi: 10.1001/archophthalmol.2009.273. (http://www.ncbi.nlm.nih.gov/pubmed/19901218?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2010
Published: June 17, 2013