ROSAH syndrome (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, migraine headache) is an autosomal dominant condition caused by a missense mutation in the ALPK1 gene which was identified in five families. The gene discussed is ALPK1; the disease is retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome.