Fig. 2

NIID ophthalmic findings. A; Full-field ERGs recorded from NIID Cases 1, 3, and 4, and 1 normal control. Case 3 with severe retinal dystrophy had non-recordable ERGs and severely reduced ERGs (Case 4) for all stimulus conditions. ERGs of Case 1 were reduced for all the stimulus conditions. B; Fundus images and OCT images of NIID cases. Fundus photographs from one eye with the better-quality image and horizontal OCT images are shown. Chorioretinal atrophies in the peripapillary regions are seen in the fundus images of Case 1, otherwise, fundus images show no abnormalities. Fundus images of Case 3 showed severe retinal degeneration. A fundus image of Case 4 showed severe macular atrophy. OCT showed partial disruption of the ellipsoid zone (EZ) in Case 1, and absence of the EZ and thinning of the outer nuclear layer in Cases 3 and 4