Hans Wagner described this disorder in 1938 in a Swiss family living in the Canton Zurich in Switzerland. It is sometimes confused with other disorders such as Stickler syndrome with abnormalities of the retina and the vitreous (a jelly-like substance in the back of the eye) but there are significant differences.
Wagner syndrome is a disorder of the vitreous and retina, one of a number of so-called hereditary ‘vitreoretinal’ disorders. The eye is the major organ of involvement although a few patients have been reported with a cleft palate. Early adult cataracts are common and a minority of patients have glaucoma. Nightblindness secondary to disease of the rods (cells in the retina that we use for night vision) is an early symptom but eventually the cones retinal cells used for color vision) become involved as well. The disease is progressive although large numbers of patients have normal or near-normal vision. The biggest threat to good ocular function is a retinal detachment which occurs in a high percentage of affected individuals.
This is an autosomal dominant disorder in which the gene mutation is passed from parent to child in a vertical pattern.
This condition can be diagnosed by an ophthalmologist by examination of the eye. An ERG or electroretinogram can be helpful to the diagnosis. Because retinal detachments and glaucoma can develop at any time, it is important that periodic eye examinations be done throughout life. Cataracts, which occur usually before the age of 45 years, may need to be removed.