A heterozygous missense mutation (c.1555C>T, p.R519W) located in exon 13 of the CACNA1F gene (GenBank accession number: NM_005183, NP_005174) on X chromosome from the proband was detected, and it was confirmed by Sanger sequencing (Figures 1 and 4(c)), while other known disease-causing gene mutations for RP were excluded. Here, CACNA1F is linked to retinitis pigmentosa 1.