Figure 1.
A. Posterior pole of the right eye of patient USHLB13-II.3 showing atrophy of the retina and choroid with pigment spicules (arrows) anterior to the arcades. B. Spectral domain optical coherence tomography of the right eye of the same patient showing significant thinning of the retina (space delineated by double arrow) compared to normal controls.
Table 1.
Summary of the identified mutations in the four Usher genes.
Figure 2.
Exome sequencing coverage, conservation of one mutation in USH2A, and diagram of the 14,042 bp deletion in GPR98.
A. Image showing the coverage of the reads at >30X and >5X of the 10 Usher genes in the 11 patients studied using whole exome sequencing. B. Conservation of the Arginine (R) at amino acid 2894 in USH2A in different species is shown. C. Diagram of the rearrangement deleting exon 83 of GPR98 in family USHLB2. Arrows indicate the proximal and distal breakpoints of the 14,042 bp deletion. Horizontal arrow shows the AluSC8 repeat overlapping the proximal breakpoint. The 17 bp insertion is shown in a rectangle between the flanking sequences. Primers used for amplifying the 5.5 kb fragment are shown. D. Shows the 5.5 kb fragment amplified in the two patients III-2 and III-3 from family USHLB2. The fragment was not amplified in the two control samples due to its large size.
Figure 3.
Distribution of mutated genes in ten Lebanese families with USH.
Among these ten families, eight are described in this study.