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Case Reports
. 2011 Aug;25(8):1098-101.
doi: 10.1038/eye.2011.88. Epub 2011 Apr 15.

Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene

P I Sergouniotis, A E Davidson, K Sehmi, A R Webster, A G Robson, A T Moore
Case Reports

Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene

P I Sergouniotis et al. Eye (Lond). 2011 Aug.
No abstract available

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Figures

Figure 1
Figure 1
(a) Colour fundus photography of both eyes showing typical golden fundus reflex and pigment mottling in the far periphery. Discolouration is less profound in the macular area. (b) Fundus autofluorescence imaging of the right eye demonstrating no abnormality. (c) Axial cross-sectional image of the proband's right macula obtained using SD-OCT. In the parafovea, SD-OCT failed to detect the hyporeflective band (outer segments; OS) that is observed between the hyper-reflective layers associated with the inner/outer segment junction (IS/OS), and the RPE/Bruch's membrane complex (RPE/BM). (d) SD-OCT of the right eye of a 9-year-old control individual. Scans in c and d are to scale and acquired using the same SD-OCT protocol. Panel a with enlarged images of boxed regions (1, patient; 2, control) shows outer retina in detail. (e) Colour fundus photography of the posterior pole of the right eye using a non-mydriatic camera. After overnight (12-h) dark adaptation, a series of images were obtained over a 20-min interval. Disappearance of the golden reflex can be seen in the first image taken (top left). The golden colour gradually reappears after 10–15 flashes. Bottom right image is taken after 20 min and 32 flashes.
Figure 2
Figure 2
Full-field ERGs from the right (RE) and left (LE) eyes of the patient and normal examples (N) for comparison. After 25-min dark adaptation, left eye rod ERGs (0.01 cd s per m2) were undetectable and bright flash ERGs (3.0 and 11.0 cd s per m2) had a waveform that resembled the early component of the red flash ERG, consistent with a dark-adapted cone system origin. After overnight dark adaptation of the right eye, ERGs showed partial recovery but a second bright flash (3.0 cd s per m2; inter-stimulus interval 60 s) resulted in marked ERG attenuation. Light-adapted ERGs (3.0 cd s per m2; 30 Hz and 2 Hz) revealed no evidence of generalised cone system dysfunction. The pattern ERG (PERG; left eye only) revealed no evidence of macular dysfunction. After photopic testing ERGs were repeated following an additional 20-min dark adaptation of both eyes.
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References

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Supplementary concepts