Case 1 as having a single heterozygous <i>CDHR1</i> variant with a phenotype overlapping that of Cases 2 and 3, and explicitly note that the genetic diagnosis in Case 1 remains inconclusive.<h4>Conclusions</h4>This study describes a Japanese family with IRD showing substantial intrafamilial phenotypic heterogeneity, ranging from macular-predominant cone-rod dystrophy to generalized rod-cone dystrophy, in the context of identified <i>CDHR1</i> variants. Here, CDHR1 is linked to Rod-cone dystrophy.