Figure 2 | Scientific Reports

Figure 2

From: Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families

Figure 2

The phenotypes and mutation of patient RP-126 who carries a heterozygous mutation in the PRPF31 gene. (A,B) Color fundus photograph (A) and while and black fundus photograph (B) of patient RP-126 shows a prominent multilobulated central atrophic maculopathy surrounded by concentric rings of black deposits. (C) Optical coherence tomography images of patient RP-126. (D) Vision field diagram of patient RP-126 shows the obvious vision loss (Humphrey automated threshold perimetry, Program 30-2). (E) ERG recording of A and B waves of patient RP-126 (30 µV/D, 25 ms/D). (F) Pedigree of RP-126 family. (G) The Sanger sequencing tracing of the mutation detected in the RP-126 family (PRPF31: NM_015629:c.1231_1232delCA, p.Gln411Glyfs*63).

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