ALPK1 and Retinal dystrophy: A heterozygous missense variant p.Thr237Met (T237M) in the alpha kinase 1 gene (ALPK1) has been shown to cause a syndrome termed retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache (ROSAH), denoting the features of ROSAH.1 Nevertheless, ALPK1’s role in human biology is still under investigation, and little has been reported about the mechanism through which the ALPK1 mutation causes ROSAH syndrome.