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. 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. Treatment varies depending on the signs and symptoms in each individual and may include the use of glasses or contact lenses and vitreoretinal surgery.

VCAN gene. 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 tissuemorphogenesis and maintenance. 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 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.

VCAN gene is available and can be used to confirm the diagnosis.

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