More recently, after ROSAH syndrome was suspected, ALPK1 analysis by Next Generation Sequencing (NGS) (re-analysis of exome sequence capture), and the pathogenic variant c.761 A > G (p.(Tyr254Cys)) was identified, confirmed to be de novo, after targeted parental analysis. This evidence concerns the gene ALPK1 and retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome.