Pathogenic alleles in CRX are mainly associated with dominant CRD, RP, and Leber congenital amaurosis (LCA),31,32 but rare biallelic CRX variants have also been found in LCA.32 Both dominant and recessive NRL-associated RP could be explained by gain of function and loss of function of NRL, respectively.33 Finally, a specific missense variant in NR2E3 was found to lead to autosomal dominant RP by a dominant-negative effect, while all other NR2E3 variants reported have been associated with autosomal recessive IRD and enhanced S-cone syndrome.34 Here, CRX is linked to Leber congenital amaurosis.