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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant

Fig. 3

ISCEV full-field electroretinogram [45] responses from affected grandsons (CC3 and CC4). Horizontal axis: 50 msec per division; Vertical axis: Dark Adapted Responses 500 μV per division; 30 Hz Flicker Responses 250 μV per division. The rod-isolated responses of CC3 and CC4 were slightly, but significantly reduced in amplitudes. The mixed rod and cone responses to the maximal intensity flash stimulus presented to the dark-adapted eye showed a normal a-wave amplitude in each subject, (CC3 445 μV, CC4 441 μV). The b-wave amplitudes were significantly reduced in each patient (CC3 515 μV, CC4 502 μV) and approximated the a-wave amplitudes. Ordinarily, the b-wave amplitude greatly exceeds that of the a-wave. The normal a-wave and selective reduction of the b-wave indicates preserved photo-transduction but impaired post-receptoral retinal function. This has been reported in RS1-associated X-linked retinoschisis [44]

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