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 language | English (US) |
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Pages (from-to) | 574-579 |
Number of pages | 6 |
Journal | Ophthalmic Surgery Lasers and Imaging Retina |
Volume | 47 |
Issue number | 6 |
DOIs | |
State | Published - Jun 2016 |
ASJC Scopus subject areas
- Surgery
- Ophthalmology