A 16-year-old female patient is presented, with a complex medical history characterized by inflammatory ocular and musculoskeletal clinical manifestations, leading to a recent diagnosis of ROSAH syndrome (Retinal dystrophy, Optic nerve edema, Splenomegaly, Anhidrosis, and Headaches) confirmed by the identification of the pathogenic variant c.761 A > G (p.(Tyr254Cys)) in ALPK1 (NM_025144.4). The gene discussed is ALPK1; the disease is retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome.