Moreover, a 46-year-old patient (ID 8289) with cone-rod dystrophy, whose great uncle may also have been affected, was found to harbour a known likely pathogenic c.122G > C; p.(Arg41Pro) missense variant in the CRX gene and a likely pathogenic c.527 T > C; p.(Leu176Pro) missense variant in the GUCA1A gene. Here, CRX is linked to Cone rod dystrophy.