Another example of pathology that involves both optic nerve and retina is ROSAH (Retinal dystrophy, Optic nerve oedema, Splenomegaly, Anhidrosis and Headache) syndrome [58, 59]; this disease is an autosomal dominant disorder caused by mutations in ALPK1 gene and whilst the acronym highlights some of the features that can be associated with the syndrome, it does not encompass them all. Here, ALPK1 is linked to anhidrosis.