Antisense oligonucleotide allele-specific targeting of EFEMP1 in a patient-derived model of Doyne honeycomb retinal dystrophy

Patient-derived iPSC-RPE harbouring the R345W (c.1033C>T) heterozygous variant in EFEMP1 underwent a 7-day gymnotic treatment with ASO1.1 at the doses 0.5 µM, 1 µM, 5 µM and 10 µM, no treatment (NT) and control (CTRL) ASO conditions were included as controls. Samples underwent targeted next generation sequencing, using primers that amplified the region in EFEMP1 harbouring the R345W (c.1033C>T) heterozygous variant, allowing for the allelic discrimination of gymnotically delivered antisense oligonucleotides (ASOs).