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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 Retina. 2016;47:574-579.].

SUBMITTER: Thomas AS 

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

REPOSITORIES: biostudies-literature

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Multimodal Imaging in Wagner Syndrome.

Thomas Akshay S AS   Branham Kari K   Van Gelder Russell N RN   Daiger Stephen P SP   Sullivan Lori S LS   Bowne Sara J SJ   Heckenlively John R JR   Pennesi Mark E ME  

Ophthalmic surgery, lasers & imaging retina 20160601 6


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  ...[more]

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