ROSAH syndrome (Retinal dystrophy, Optic nerve edema, Splenomegaly, Anhidrosis, and Headache) is a rare autosomal dominant disorder caused by heterozygous missense pathogenic variants in ALPK1. This gene encodes alpha-kinase 1, a key regulator of the inflammatory NF-κB pathway. This evidence concerns the gene ALPK1 and Retinal dystrophy.