This disorder was frequently confused with Stickler syndrome, but lacks the systemic features and high incidence of retinal detachments.

This particular collagen gene only becomes active in the jelly-like material that fills the eyeball; in Wagner's disease this "vitreous" jelly grabs too tightly to the already weak retina and pulls it away.

Diagnosis is based on fundus examination that reveals an empty vitreous with vitreoretinal degeneration in similar picture to stickler's syndrome but with no systemic associations.

In 1938 Hans Wagner described 13 members of a Canton of Zurich family with a peculiar lesion of the vitreous and retina.

In the last report, characteristic facies (epicanthus, broad sunken nasal bridge, receding chin) was noted.