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Case Reports
. 2016 Jun 1;47(6):574-9.
doi: 10.3928/23258160-20160601-10.

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
Case Reports

Multimodal Imaging in Wagner Syndrome

Akshay S Thomas et al. Ophthalmic Surg Lasers Imaging Retina. .

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.].

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Figures

Figure 1
Figure 1
Multimodal imaging of Wagner syndrome. Case 1 is represented in images A to C. Montage color fundus photo of the right eye (A) shows vascular attenuation, retinal pigment epithelium (RPE) atrophy, and a vitreous veil (arrows). Kinetic perimetry (B) shows a ring scotoma in the right eye, a partial ring scotoma in the left eye, and a constricted central visual field in both eyes. Spectral-domain optical coherence tomography (SD-OCT) of the right eye (C) shows cystoid macular edema. Pedigree analysis of family A (D) shows a dominant inheritance pattern. Case 2 is represented in images E to G. Color fundus photo of the right eye (E) shows generalized RPE mottling and a vitreous veil (arrows). Kinetic perimetry (F) shows constricted central visual field and scattered scotomas in both eyes. SD-OCT of the left eye (G) shows foveal and parafoveal retinal thinning. (H) Pedigree analysis for family B.
Figure 2
Figure 2
Structural imaging of Case 3. Montage color fundus photos of the right (A) and left (B) eyes show vascular attenuation, perivascular and peripheral retinal pigment epithelium atrophy, and pigment clumping. Fundus autofluorescence of the right (C) and left eyes (D) show perivascular and peripheral hypoautofluorescence and peripapillary and macular hyperautofluorescence. Spectral-domain optical coherence tomography of the right (E) and left (F) eyes show segmental outer retinal disruption (arrows), with relative foveal sparing, epiretinal membranes in both eyes, and cystoid macular edema in the left eye.
Figure 3
Figure 3
Functional imaging of Case 3. Kinetic perimetry (A) reveals eccentric scotomas in both eyes to the V4e and III4 test targets. The smaller/dimmer test targets are constricted to a small central island in both eyes. Full-field electroretinography (ERG) (B) shows severely depressed scotopic and photopic responses in both eyes. Multifocal ERG (C) shows subnormal macular cone responses in both eyes.
Figure 4
Figure 4
Imaging in Patient 4. Montage of the right fundus (A) showing vascular attenuation, chorioretinal scarring, and pigment deposition. Peripheral vitreous veils are visible (arrows). Goldmann visual field of the right (B) and left (C) eye showing ring scotoma formation and constricted central isopters.
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References

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