Wagner syndrome is a rare hereditary vitreo-retinal disease. It is one of the connective tissue disorders affecting the collagen.

The main feature is an ‘empty’ vitreous that lacks the normal structure. Missing or weak vasculature in the peripheral retina makes the retina prone to tear or getting detached. Diminished visual acuity at night is also a problem as is the early onset of cataract (from the age of 30) and choroidal atrophy. A lot of people are moderate (> -2) to highly (> -6) myopic.

Not everyone has this disease in the same degree: one quarter will have no or minor problems, half of the affected people have moderate problems and again one quarter has major problems (retinal detachment for instance).

Wagner syndrome is a dominant autosomal disease. That means that 50% of your offspring will have the disease if you have Wagner. There is no difference in men or women.

Wagner syndrome has been reported in families of various ethnic background including Caucasian, Japanese and Chinese. Thusfar the families that were diagnosed with Wagner come from Switzerland, the Netherlands, France, Great-Brittain, Japan, USA and Canada.

Recently the gene that is responsible for the disease is found. It is the Versican gene (CSPG2 = chondroitin sulfate proteoglycan 2) on the long arm (q) of the 5th chromosome (5q14.3). It causes a different expression of the proteins V0 and V1, as exon 8 is shorter or not ‘read’ at all.

The disease is named after the Swiss ophthalmologist Hans Wagner, who described a family with this disorder in 1938. Since than no more than 15 families, and some individual cases (4?) have been reported.