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 CDHR1 variants. These findings highlight the complexity of genotype-phenotype correlations in CDHR1-related retinal disease and underscore the importance of cautious interpretation of genetic results, particularly when variants of uncertain significance are identified.
Hirakata et al. (Fri,) studied this question.