The presence of wild‐type mRNA product in affected individuals carrying homozygous intronic variants has been previously observed for the CEP290 c.2991+1655A>G pathogenic variant in LCA patients (den Hollander et al., 2006) and for the ARL2BP c.390+5G>A pathogenic variant in ARRP (Fiorentino et al., 2018). Here, ARL2BP is linked to Leber congenital amaurosis.