PMC4721011_01
Fundus examination. a Peripheral schisis with a large hole can be noticed in the retinography of the right eye. b OCT B-scan across the fovea. Intraretinal cysts can be observed along the inner nuclear layer. c Three-dimensional reconstruction across the hole in the peripheral schisis of the inferior retina. The inner retinal layers are missed in the right side of the image, while in the left side are still present but detached from the outer retina
12881_2016_270_Fig1_HTML.jpg
PMC4721011_01_12881_2016_270_Fig1_HTML.jpg
Fig1
Mizuo-Nakamura phenomenon was also observed in the peripheral retina (Fig. 1).
Partial electropherogram of exon 5 of RS1. Electropherogram of the proband showing a c.467_499 in-frame deletion mutation of 33 nucleotides leading to 11 amino acid deletion (RTDERLNWIYY - p.R156_Y166del)
12881_2016_270_Fig2_HTML.jpg
PMC4721011_01_12881_2016_270_Fig2_HTML.jpg
Fig2
Alignment of RS1 orthologs. It is shown how the deleted sequence is conserved in several mammals, to predict functional importance
12881_2016_270_Fig3_HTML.jpg
PMC4721011_01_12881_2016_270_Fig3_HTML.jpg
Fig3