ABCA4 and retinal disorder: There have been several studies demonstrating the identification of such RNA defects using augmented screening approaches in previously unsolved ABCA4‐mediated retinopathies (Bauwens et al., 2019; Bax et al., 2015; Cornelis et al., 2017; Schulz et al., 2017; Zernant et al., 2018) and in some cases, their validation with functional midigene splicing assays (Albert et al., 2018; Sangermano et al., 2018).