Multimodal imaging in Wagner syndrome

Akshay S. Thomas, Kari Branham, Russell N. Van Gelder, Stephen P. Daiger, Lori S. Sullivan, Sara J. Bowne, John R. Heckenlively, Mark E. Pennesi

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

Wagner syndrome is a rare vitreoretinopathy described in a limited number of families. Here the authors describe four cases of suspected Wagner syndrome. All four cases had depressed rod and cone function on electroretinography, outer retinal disruption on spectral-domain optical coherence tomography, and constricted central visual fields with smaller isopter testing. Fundus autofluorescence performed in one patient highlighted a perivascular pattern to chorioretinal atrophy. Two patients had a history of uveitis with active cystoid macular edema. The diagnosis of Wagner syndrome was supported in three cases with genetic testing for VCAN mutations, whereas the other case harbored a variation of unknown significance in VCAN that may have been nonpathogenic.

Original languageEnglish (US)
Pages (from-to)574-579
Number of pages6
JournalOphthalmic Surgery Lasers and Imaging Retina
Volume47
Issue number6
DOIs
StatePublished - Jun 2016

ASJC Scopus subject areas

  • Surgery
  • Ophthalmology

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