Wagner syndrome

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.


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page last modified Feb 25th 2010

prof dr Hans Wagner


Swiss ophthalmologist

Some people speak of Wagner syndrome. They choose this word as they think that it is not a one-issue disease. Others speak of Wagner disease, mainly as only one organ/part of the body is affected.

But the semantics in this are not clear. Weil’s disease for instance affects liver and kidneys, but is still called disease.

If you google Wagner syndrome you will get over 3 million hits, with Wagner disease it might be twice as much (it fluctuates).

Most authors of the publications about this disorder call it Wagner syndrome.

The Dutch ophthalmologist L. Jansen suggested the name ‘Wagner syndrome’ for the disorder described by Hans Wagner in 1938. The reason was that there is much more involved than retina and vitreous alone, so the (latin) name Wagner himself gave this disorder, degeneratio hyaloideo-retinalis hereditaria, was too specific.

So we choose to stick to the name Jansen proposed.

what is in a name?