In this report, we present a patient with FA complicated by severe macular atrophy who was heterozygous for two identified RDH5 gene variants, one of which is a previously unreported, novel missense variant of presumed pathogenicity, c.814_815del (p.Leu272Aspfs∗63), as well as a previously described pathogenic nonsense variant, c.160C > T (p.Arg54∗) also known as c.343C > T in the literature [10]. This evidence concerns the gene RDH5 and Friedreich ataxia.