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.

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

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.

Read more about the VCAN gene.

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.