CDHR1 and Menkes disease: In literatures, different autosomal recessive phenotypes have been associated with the CDHR1 gene mutations, ranging from RP to CRD although the relationship between phenotypes and gene mutations are variable.16, 33, 34, 36, 38 The proband in our study, with a loss of more than one‐thirds of CDHR1 by a homozygous and nonsense variant p.Y547*, has been noticed the simultaneous onset of dark adaptation difficulties, trouble with color vision, and light sensitivity at age of 24; ERG in different waves showed markedly reduced rod‐and‐cone responses; FP/FPP showed macular dysdrophy (MD).