Variants found in both genes (USH2A and CNGB3) segregated in the family; therefore suggesting a RP diagnosis due to USH2A, and a likely cone dystrophy/achromatopsia diagnosis due to CNGB3 in the proband; and a cone dystrophy/achromatopsia diagnosis in his brother (sibling II:2, S1B Fig). The gene discussed is USH2A; the disease is achromatopsia.