ABCA4 and Stargardt disease: Finally, this study has revealed interfamilial phenotypic variability involving the known pathogenic mutations p.R1129L of ABCA4 and p.R257* of CERKL. The mutation p.R1129L of ABCA4 was previously reported as causative of Stargardt disease but we found this mutation in homozygosis in the affected member of family #84, diagnosed of RP.