Although the family in study was clinically diagnosed of RP with presumed autosomal dominant inheritance, our diagnostic algorithm led to the identification of six candidate heterozygous variants in three autosomal recessive IRD-associated genes: USH2A (M1–M4), PDZD7 (M5) and ADGRV1 (M6). This evidence concerns the gene PDZD7 and retinitis pigmentosa 1.