[1] ROSAH stands for retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis and headache.

[2] The disease is inherited in an autosomal dominant manner and caused by heterozygous missense mutations in the ALPK1 gene, an innate immune sensor for bacterial sugars.

[3] While the initial descriptions of ROSAH syndrome emphasized the ocular manifestations of the disease, it is now clear that ROSAH syndrome can also present with a range of systemic features including recurrent fever, uveitis, deforming arthritis, AA amyloidosis, meningeal enhancement and premature mineralisation of the basal ganglia, substantia nigra and red nuclei on MRI.

[2][1] Additionally, clinical features not conventionally attributed to inflammation have also been reported and included short dental roots, enamel defects and decreased salivary flow.

[3] ROSAH syndrome patients' primary samples and in vitro assays with mutated ALPK1 constructs have shown immune activation with increased NF-κB signaling, STAT1 phosphorylation and interferon gene expression signature.