ALPK1 and retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome: To date, only three heterozygous missense pathogenic variants in the ALPK1 gene, have been described to cause ROSAH [the recurrent variant c.710 C >T (p.Thr237Met), c.761 A >G (p.Tyr254Cys) and the more recently published c.830 C >T (p.Ser277Phe)], ALPK1 gene encodes the alpha-kinase 1 protein [3–5] which is a crucial component of the innate immune system, where it functions as a receptor for bacterial sugars, such as ADP-heptose, and activates the inflammatory NF-κB signaling pathway.