Interestingly, no clinical evidence of Usher syndrome was observed in the retinal examination of our patient despite carrying a homozygous pathogenic mutation in USH2A. Mutations in USH2A are identified in 57–79% of cases of Usher syndrome (Koenekoop et al., 1999) but only in 10–15% of cases of non-syndromic retinitis pigmentosa (Bonnet et al., 2011). The gene discussed is USH2A; the disease is Usher syndrome.