EFEMP1 and retinal drusen: Sanger sequencing confirmed the presence of the heterozygous c.418C>T change in both of the index affected males (I:1, II:4) and excluded mutations in other exons or splice-sites of EFEMP1 including a previously identified missense mutation (c.1033C>T, p.Arg345Trp) linked with inherited retinal drusen [11].