Consistent with the observations in patients with ROSAH syndrome, knock-in mice with the Alpk1 T237M mutation had elevated serum levels of CXCL1, CXCL10 and CCL2 (online supplemental figure 11a). Here, CCL2 is linked to retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome.