OFD1 and Retinal dystrophy: While this is the first intronic variant outside of the splice site consensus sequences deemed pathogenic in TULP1, the causality of deep‐intronic variants has also been described in nine other retinal dystrophy genes: ABCA4, CEP290, CHM, OA1, OAT, OFD1, PROM1, PRPF31, and USH2A (Bax et al., 2015; Braun et al., 2013; Carss et al., 2017; den Hollander et al., 2006; Liquori et al., 2016; Mayer et al., 2016; Naruto et al., 2015; Rio Frio et al., 2009; Vache et al., 2012; van den Hurk et al., 2003; Webb et al., 2012) (www.dbass.soton.ac.uk).