The clinical evaluation did, however, identify MA as a carrier for a variant (c.734G>A, p.Arg245Gln) in PHYH, which has been associated in the autosomal recessive or compound heterozygote states with Refsum disease, which is an inherited condition that can lead to vision loss, anosmia, and a variety of other signs and symptoms (Greenberg et al., 2006). The gene discussed is PHYH; the disease is Refsum disease.