Figure 3 | Scientific Reports

Figure 3

From: High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative

Figure 3

Clinical and molecular data of patient RP1973 harboring the nonsense mutations in CEP250. (a) Family pedigree with the Sanger sequencing results revealing the segregation pattern of the mutations. (b) Audiometric results evincing the progression of the bilateral hearing loss. (c) Ocular phenotype. Upper images correspond to the right eye, bottom images are from the left eye. Fundus pictures showing pigment clumps (c1, c4) and thinning of the peripheral arterioles (c2, c5). OCT images of the foveal region showing loss and discontinuity of the retinal pigment epithelium layer (c3, c6). Abbreviations: yo, years old; dB, decibel; Hz, hertz.

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