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). Here, USH2A is linked to retinitis pigmentosa 1.