ABCA4 and retinal degeneration: Apart from the aforementioned splicing factors, others genes of different pathways involved in retinal degeneration were also affected by the mutation, such as inflammation, oxidative stress, retinol metabolism (Abca4), ciliogenesis (Bbs1, Bbs4, Bbs5, Bbs7, Bbs9) and cellular apoptosis (Additional file 1: Table S4; Additional file 3, Splicing).