As regards genotype-phenotype correlation associated with USH2A p.(Cys759Phe) variant, the presence of a p.(Cys759Phe) allele in homozygous state or in combination with other USH2A missense mutation is associated with a RP or a RP with a late onset of hypoacusis clinical subtypes. The gene discussed is USH2A; the disease is retinitis pigmentosa 1.