Wagner syndrome

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.

In people with Wagner syndrome, the light-sensitive tissue that lines the back of the eye (the retina) becomes thin and may separate from the back of the eye (retinal detachment). The blood vessels within the retina (known as the choroid) may also be abnormal. The retina and the choroid progressively break down (degenerate). Some people with Wagner syndrome have blurred vision because of ectopic fovea, an abnormality in which the part of the retina responsible for sharp central vision is out of place. Additionally, the thick, clear gel that fills the eyeball (the vitreous) becomes watery and thin. People with Wagner syndrome develop a clouding of the lens of the eye (cataract). Affected individuals may also experience nearsightedness (myopia), progressive night blindness, or a narrowing of their field of vision.

Vision impairment in people with Wagner syndrome can vary from near normal vision to complete loss of vision in both eyes.

Other names

Hyaloideoretinal degeneration of Wagner; VCAN-related vitreoretinopathy; Wagner disease; Wagner vitreoretinal degeneration; Wagner vitreoretinopathy

Inheritance pattern

Autosomal dominant

Related genes

VCAN

Source: MedlinePlus Genetics, U.S. National Library of Medicine.