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Wagner syndrome

Wagner syndrome

Reviewed July 2014

What is Wagner syndrome?

Wagner syndrome is a hereditary disorder that causes progressive vision loss. The eye problems that lead to vision loss typically begin in childhood, although the vision impairment might not be immediately apparent.

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 (known as the choroid) may also be abnormal. The retina and the choroid progressively break down (degenerate). 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. Additionally, the thick, clear gel that fills the eyeball (the vitreous) becomes watery and thin. People with Wagner syndrome develop a clouding of the lens of the eye (cataract). Affected individuals may also experience nearsightedness (myopia), progressive night blindness, or a narrowing of their field of vision.

Vision impairment in people with Wagner syndrome can vary from near normal vision to complete loss of vision in both eyes.

How common is Wagner syndrome?

Wagner syndrome is a rare disorder, although its exact prevalence is unknown. Approximately 300 affected individuals have been described worldwide; about half of these individuals are from the Netherlands.

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 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 that occur in people with Wagner syndrome. It is unknown why VCAN gene mutations seem solely to affect vision.

Read more about the VCAN gene.

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.

You might also find information on the diagnosis or management of Wagner syndrome in Educational resources and Patient support.

General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.

To locate a healthcare provider, see How can I find a genetics professional in my area? 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.

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

What other names do people use for Wagner syndrome?

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

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about Wagner syndrome?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding Wagner syndrome?

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

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (7 links)


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? in the Handbook.

Reviewed: July 2014
Published: February 1, 2016