To access the data, click or select the words “Appendix 2.” Pedigrees of four families (RD013, RD018, RP074 and RP179) in which same reported variant c.6658C>T; p. (Gln2220*) of ABCA4 was identified. Empty squares and circles show the unaffected males and females, respectively. The filled shapes show the affected individuals. The symbol labeled with a red arrow in each pedigree highlights the proband. Consanguineous unions are indicated by double lines.