Only four patients have been reported in the literature with AD RDH12-RP (Fingert et al., 2008; Muthiah et al., 2022; Sarkar et al., 2020); one unrelated family sharing the same variant studied here (Sarkar et al., 2020), and two other unrelated families, who were heterozygous for the c.776del p.(Glu260Argfs*18) or c.763del p.(Val255Serfs*23) variants in RDH12, respectively (Fingert et al., 2008; Muthiah et al., 2022). The gene discussed is BLOC1S3; the disease is Alzheimer disease.