Figure 5.

An approach to RNA editing in a patient with Usher Syndrome type 2 with compound heterozygous mutations in USH2A (c.2299delG / c.11864G>A). (A) Fundus photographs and (B) fundus autofluorescence images demonstrating pigmentary retinopathy and narrowing of the retinal vasculature. (C) Following expression of an USH2A cDNA fragment in HEK293T cells, the 11864G>A (p.Trp3855Ter) mutation can be partially repaired with an efficiency of 43% to restore the premature termination codon to tryptophan. The target adenosine is highlighted in grey. (D) Repair of the target is not observed without expression of the REPAIRv2 (dPspCas13b-hDAR2_DD(E488Q/T375G)) plasmid.