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.

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.

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.

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.

Published Date: July 01, 2014
Published By: National Institutes of Health