In summary, we name this autosomal dominant condition ROSAH syndrome to reflect the most common features across affected individuals: retinopathy, optic nerve edema, splenomegaly, anhidrosis, and headache, and identify p.Thr237Met ALPK1 as the causative variant. This evidence concerns the gene ALPK1 and retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome.