TULP1 and Retinal dystrophy: Notably, it has been suggested that patients carrying homozygous or compound heterozygous TULP1 pathogenic variants, particularly those affecting the tubby domain and/or resulting in a loss-of-function (LOF) effect, typically exhibit a severe, early-onset form of retinal dystrophy (den Hollander et al., 2007; Jacobson et al., 2014; Jia et al., 2022; Mataftsi et al., 2007).