In cohort 1a, one person (USH3‐1), initially diagnosed with USH1, was found to be homozygous for the c.254‐1G>A mutation in the USH3 gene CLRN1. This patient did in fact present a phenotype, which differed from the typical USH3 phenotype, showing profound congenital hearing impairment and early onset of RP. Here, CLRN1 is linked to hearing loss disorder.