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Wagner's syndrome (Hans Wagner)

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A familial eye disease characterized by changes in the peripheral fundus with narrowed and ensheathed retinal vessels, retinal pigmentation, circular membranes in a liquefied vitreous attached to the equatorial retina, and choroidal atrophy. Inheritance is autosomal dominant.

In 1938 Hans Wagner described 13 members of a Canton 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. 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.

Wagner's syndrome has been used as a synonym for Stickler's syndrome. Since there may be more than one type of Wagner syndrome, differentiation from Stickler's syndrome is difficult, and authors disagree as to whether these are the same entity. It may be that Wagner has skeletal effects, but not the joint and hearing problems of Stickler's syndrome. Blair et al. in 1979 concluded that the Stickler and Wagner syndromes are the same disorder. However, retinal detachment, which is a feature of Stickler' syndrome, was not noted in any of the 28 members of the original Swiss family studied by Wagner in 1938 and later by Boehringer in 1960 and Ricci in 1961.

Stickler's syndrome is entered under Gunnar B. Stickler, German-American paediatrician, born 1925.

You will find more information at the website http://www.wagnersyndrome.eu/wagner.html

We thank Veronique Nas for information submitted.


  • H. Wagner:
    Ein bisher unbekanntes Erbleiden des Auges (Degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zürich.
    Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1938, 100: 840-858.
  • H. R. Boehringer, P. Dieterle, E. Landolt:
    Zur Klinik und Pathologie der degeneratio hyaloideo-retinalis hereditaria (Wagner).
    Ophthalmologica, Basel, 1960, 139: 330-338.

  • A. Ricci:
    Clinique et transmission hereditaire des degenerescences vitreo-retiniennes.
    Bulletin de la Société d'ophtalmologie de Paris, 1962, 61: 618-662.
  • L. M. A. A. Jansen:
    Degeneratio hyaloideo-retinalis hereditaria.
    Ophthalmologica, Basel, 1962, 144: 458-464.
  • R. L. Alexander, M. Shea:
    Wagner's disease. Archives of Ophthalmology, Chicago, 965, 74: 310-318.
    We thank Albert O. Edwards, MD, PhD for this information:
    The family reported by Alexander and Shea under Wagner syndrome has Stickler syndrome with a mutation in exon 2. This exon can be alternatively spliced; it is present in the eye, but not in adult cartilage accounting for much milder systemic features.
  • N. P. Blair, D. M. Albert, R. M. Liberfarb, T. Hirose:
    Hereditary progressive arthro-ophthalmopathy of Stickler.
    American Journal of Ophthalmology, 1979, 88: 876-888.

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