HKDC1 and retinitis pigmentosa 1: As an example, a recently identified homozygous missense variant (p.Trh58Met) in HKDC1 in two unrelated RP families by WES postulated the gene as candidate for the disease, and the disruption of Hkdc1 in mice using these programable nucleases resulted in a reduced scotopic electroretinogram response and thinner outer nuclear layer similar to the human patients [71].