Furthermore, pseudodominant families are frequent inABCA4-associated retinopathy due to high allelic load ofABCA4 variants in the general population (Beit-Ya’acov et al., 2007; Huckfeldt et al., 2016; Lee et al., 2016; Maugeri et al.,1999; Shroyer et al., 2000; Tracewska et al., 2019) and late onset diseaseexpression due to reduced penetrance of variants in both PRPH2 andABCA4 is well documented (Runhart et al., 2018; Yatsenko et al.,2001; Zernant et al., 2017, 2018). The gene discussed is PRPH2; the disease is retinal disorder.