Overexpression of the two variants associated with ROSAH syndrome (p.T237M and p.Y254C) and of the variant associated with spiradenoma (p.V1092A) trigger NF-κB overactivation.12 The gene discussed is NFKB1; the disease is retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome.