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 2The alternative text for this image may have been generated using AI.

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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