<h4>Background</h4>Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache (ROSAH) syndrome is an autosomal dominant disorder caused by a heterozygous missense mutation in alpha kinase 1 (ALPK1). The gene discussed is ALPK1; the disease is retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome.