Multimodal Imaging in Wagner Syndrome.

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. [Ophthalmic Surg Lasers Imaging R

SUBMITTER: Thomas AS 

PROVIDER: S-EPMC5530878 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature