RP1 and Macular dystrophy: We identified an Alu insertion in RP1 exon 4 in unsolved patients with the disease-causing variant p.(Arg1933*) in families B, C, and E, p.(Ile1528Valfs*10) in family A, and p.(Cys1399Leufs*5) in family D. Interestingly, macular dystrophy without peripheral retinal dystrophy was observed with c.5797C > T:p.(Arg1933*) and early-onset CRD was observed with c.4582_4585del:p.(Ile1528Valfs*10) (family A.II-2) and c.4196del:p.(Cys1399Leufs*5) (family D.II-2).