FAP and retinitis pigmentosa 1: p.Arg515Trp, p.Ala145Asp and p.Ala214Serfs*20 were associated with both RP and FAP, while p.Ala434Glu, p.Ser238Cys, c.94+2T>A, and p. Leu328Phe were only associated with FAP (Fig. 1d).