However, identification of the p. (Asp207_Gly208del) homozygous variant segregating with the LCA/EOSRD phenotype in four affected cases of the RP169 family supports the previous findings of association of homozygous PRPH2 variants with more severe phenotypes compared to heterozygous PRPH2 mutation carriers [31] (Figure 1, Figure 2 and Figure 3, Table 1 and Table 2). Here, PRPH2 is linked to severe early-childhood-onset retinal dystrophy.