Sequencing of a panel of 293 retinal dystrophy genes in DNA from the index case identified homozygosity for a pathogenic ABCA4 complex allele and homozygosity for a pathogenic variant in USH2A. The ABCA4 complex allele corresponded to a c.4926C>G transversion that predicts a p.Ser1642Arg missense mutation (Figures 4A1–A3) and c.5044_5058del that predicts an in-frame deletion of five amino acids (p.Val1682_Val1686del) in the ABCA4 protein (Figures 4B1–B3). Here, ABCA4 is linked to Retinal dystrophy.