ALPK1 and retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome: The initial paper describing families with ROSAH focused on the ophthalmologic manifestations of the disease and proposed that, like many other forms of heritable retinal degeneration, ROSAH syndrome may be a ciliopathy.2 In support of this hypothesis, the authors showed that ALPK1 localises to the ciliary basal body in retinal pigment epithelial cells, and primary cilia formation is dysfunctional in primary patient cells.1