As the list of heterozygous SCA34 ELOVL4 mutations grew (Table 1), in 2019 another ELOVL4 mutation, c.512T > C, p.I171T in exon 4 of ELOVL4, (Fig. 1) was reported in a family that presented with both SCA34 and retinal dystrophy characteristic of ELOVL4 mutations that cause STGD3 (39). The gene discussed is ELOVL4; the disease is Retinal dystrophy.