case_images: PMC4721011_01
case_images: 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
case_images: 12881_2016_270_Fig1_HTML.jpg
case_images: PMC4721011_01_12881_2016_270_Fig1_HTML.jpg
case_images: Fig1
case_images: Mizuo-Nakamura phenomenon was also observed in the peripheral retina (Fig. 1).
case_images: 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)
case_images: 12881_2016_270_Fig2_HTML.jpg
case_images: PMC4721011_01_12881_2016_270_Fig2_HTML.jpg
case_images: Fig2
case_images: Alignment of RS1 orthologs. It is shown how the deleted sequence is conserved in several mammals, to predict functional importance
case_images: 12881_2016_270_Fig3_HTML.jpg
case_images: PMC4721011_01_12881_2016_270_Fig3_HTML.jpg
case_images: Fig3