Wagner's disease

Genetics

Wagner's syndrome has for a long time been considered a synonym for Stickler's syndrome. However, since the gene that is responsible for Wagner disease (and Erosive Vitreoretinopathie) is known (2005), the confusion has ended. For Wagner disease is the Versican gene (VCAN) located at 5q14.3 is responsible.

For Stickler there are 4 genes are known to cause this syndrome: COL2A1 (75% of Stickler cases), COL11A1 (also Marshall syndrome), COL11A2 (non-ocular Stickler) and COL9A1 (recessive Stickler).

The gene involved helps regulate how the body makes collagen, a sort of chemical glue that holds tissues together in many parts of the body. 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.

Signs & Symptoms

The most common sign of the disease is sudden worsening of vision at young ages where it isn't normal, and without any obvious cause like trauma; onset of symptoms can vary a lot, but it's not unusual for symptoms to appear as young as two years. Specific symptoms include cataracs, atrophy of the choroid (connective tissues) & retina, glaucoma & increased intraocular pressure, myopia, optic nerve atrophy, lack of gel in the vitreous cavity, peripheral retinal detachment, loss of retinal pigmentation, visual field defects that often involve loss of peripheral vision, vitreoretinopathy leading to full detached retina, and overall loss of visual acuity especially with focusing on distant objects.

Diagnosis

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.

Treatment

Most people with the disease need laser repairs to the retina, and about 60 per cent need further surgery to remove cataracts.

History

In 1938 Hans Wagner described 13 members of a Canton of Zurich family with a peculiar lesion of the vitreous and retina. Ten additional affected members were observed by Boehringer et al. in 1960 and 5 more by Ricci in 1961. In the Netherlands Jansen in 1962 described 2 families with a total of 39 affected persons. Both families had only ocular features. Alexander and Shea in 1965 reported a family. In the last report, characteristic facies (epicanthus, broad sunken nasal bridge, receding chin) was noted. Genu valgum was present in all. In addition to typical changes in the vitreous, retinal detachment occurs in some and cataract is another complication.

References

References

1. "Wagner syndrome {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
2. "Wagner disease". [[U.S. Department of Health and Human Services]].
3. (November 2022). "Multimodal Retinal Imaging Findings in Two Cousins With VCAN-Related Vitreoretinopathy or Wagner Disease". Ophthalmic Surgery, Lasers and Imaging Retina.
4. (5 April 2013). "Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.". Molecular Vision.
5. "Wagner Syndrome: for patients".
6. "Wagner Syndrome".
7. (4 June 1986). "WAGNER VITREORETINOPATHY". [[Johns Hopkins University]]®.