Genetic analysis did not identify any pathogenic variant in any other gene associated with retinal dystrophy, except ABCA4. Whether this atypical clinical phenotype is due to the presence of the second pathogenic c.3758C>T p.(Thr1253Met) variant remains elusive, because, to our best knowledge, no other identical compound heterozygous patient has been identified so far. This evidence concerns the gene ABCA4 and Retinal dystrophy.