Multimodal Imaging in Wagner Syndrome.
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.].
Akshay S
AS
Thomas
Kari
K
Branham
Russell N
RN
Van Gelder
Stephen P
SP
Daiger
Lori S
LS
Sullivan
Sara J
SJ
Bowne
John R
JR
Heckenlively
Mark E
ME
Pennesi
D000328:Adult; D002648:Child; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography / Q000379:methods; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D008875:Middle Aged; D064847:Multimodal Imaging / Q000379:methods*; D012160:Retina / Q000000981:diagnostic imaging* / Q000503:physiopathology; D012162:Retinal Degeneration / Q000175:diagnosis*; D041623:Tomography, Optical Coherence / Q000379:methods; D053675:Versicans / Q000172:deficiency*; D014792:Visual Acuity
D053675:Versicans