In RP-0911, a novel nucleotide change in C1QTNF5 (NM_015645.3: c.489C>A), leading to the missense mutation p.Ser163Arg previously associated with Late-Onset Retinal Degeneration (LORD, #605670) [32] was identified in the index case. This evidence concerns the gene C1QTNF5 and retinal degeneration.