Wagner syndrome

Posted by & filed under Part 29: EYE.

Wagner syndrome (hyaloideoretinal degeneration of Wagner) is an autosomal dominant vitreoretinopathy. It manifests at childhood or adolescence and is progressive. In the original Swiss kindred, most patients had an “empty” vitreous cavity with avascular strands or veils. The molecular cause for this condition in the original kindred was recently identified:

Mol Vis. 2006 Apr 17;12:350-5.
Identification of the genetic defect in the original Wagner syndrome family.
Kloeckener-Gruissem B, Bartholdi D, Abdou MT, Zimmermann DR, Berger W.

For more information on inherited disorders of the eye, see part 29 of OMMBID.

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

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