SCA34 patients typically show no retinal phenotype, although a recent report identified a point mutation (c.512T>C, p.I171T) in exon 4 of ELOVL4 as a cause of SCA34 that also presents with retinitis pigmentosa in some of the affected family members [17]. This evidence concerns the gene ELOVL4 and spinocerebellar ataxia type 34.