Wagner's disease
Encyclopedia
Wagner's disease is a familial eye disease of the connective tissue in the eye that can cause reduced visual acuity. Wagner's disease was originally described in 1938. This disorder was frequently confused with Stickler syndrome
, but lacks the systemic features and high incidence of retinal detachments. Inheritance is autosomal dominant.
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 Holland 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.
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.
Most people with the disease need laser repairs to the retina, and about 60 per cent need further surgery.
Stickler syndrome
Stickler syndrome is a group of genetic disorders affecting connective tissue, specifically collagen. It was first studied and characterized by Gunnar B. Stickler in 1965. Stickler syndrome is a subtype of collagenopathy, types II and XI...
, but lacks the systemic features and high incidence of retinal detachments. Inheritance is autosomal dominant.
History
In 1938 Hans WagnerHans Wagner (medicine)
Hans Wagner was born in Zurich 1905-1989 was the first one to describe people who suffered from degeneratio hyaloidea-retinalis hereditaria.L...
described 13 members of a Canton of Zurich
Canton of Zürich
The Canton of Zurich has a population of . The canton is located in the northeast of Switzerland and the city of Zurich is its capital. The official language is German, but people speak the local Swiss German dialect called Züritüütsch...
family with a peculiar lesion
Lesion
A lesion is any abnormality in the tissue of an organism , usually caused by disease or trauma. Lesion is derived from the Latin word laesio which means injury.- Types :...
of the vitreous and retina
Retina
The vertebrate retina is a light-sensitive tissue lining the inner surface of the eye. The optics of the eye create an image of the visual world on the retina, which serves much the same function as the film in a camera. Light striking the retina initiates a cascade of chemical and electrical...
. Ten additional affected members were observed by Boehringer et al.. in 1960 and 5 more by Ricci in 1961. In Holland 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
Genu valgum
Genu valgum, commonly called "knock-knee", is a condition where the knees angle in and touch one another when the legs are straightened. Women have a wider pelvis than men and a relatively shorter length of the thigh bone, and as a result, have a greater static genu valgum than men...
was present in all. In addition to typical changes in the vitreous, retinal detachment occurs in some and cataract
Cataract
A cataract is a clouding that develops in the crystalline lens of the eye or in its envelope, varying in degree from slight to complete opacity and obstructing the passage of light...
is another complication.
Current developments
Wagner's syndrome has for a long time been used as 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 5q14.3 responsible. For Stickler there are 4 genes found: 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.
Most people with the disease need laser repairs to the retina, and about 60 per cent need further surgery.
Also known as
- Wagner’s hyaloid retinal degeneration
- Wagner’s vitreoretinal degeneration
- Wagner syndrome
External links
Reference links
- http://www.wagnersyndrome.eu Website for patients, doctors and researchers dealing with Wagner syndrome
- http://www.ophth.uiowa.edu/Wagner.html Wagner's disease and erosive vitreoretinopathy
- http://www.eyeinstitute.net/blindness.html University of Ottawa Eye Institute (Stickler syndrome)