Figure 3 | Scientific Reports

Figure 3

From: AAV2-mediated gene therapy for Bietti crystalline dystrophy provides functional CYP4V2 in multiple relevant cell models

Figure 3

Diagnosis of a BCD patient and iPSCs generation. (A) Fundus image showing characteristic crystalline deposits. (B) OCT images show hyper-reflective crystalline deposits above the RPE in the BCD patients. Arrows indicate crystalline deposits. (C) Sanger sequencing showed a point mutation of CYP4V2 in the BCD patient (highlighted in pink). (D) The level of CYP4V2 mRNA in skin fibroblasts was significantly greater in the control than in the cells from the BCD patient. (E) Markers (including OCT-4, TRA-1–60, NESTIN, AFP and SMA) for iPSCs immunostaining. Data are presented as mean ± SEM. *p < 0.05.

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