Long-term observation of retinal dystrophy genetically diagnosed as ROSAH syndrome

To report a case of ROSAH syndrome (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis and headache) that was diagnosed by genetic analysis. Here we describe long-term observations of a 24-year-old male patient with retinal dystrophy who had been followed since age 9 years. The patient’s visual function deteriorated progressively over time due to advancing retinal degeneration without apparent retinal vasculitis or other complications. A sudden decline in vision in his right eye occurred at the age of 19 years. Ophthalmoscopy and swept-source optical coherence tomography at this time demonstrated that vitreous opacities and epiretinal membranes had developed in both eyes. At age 23 years, trio-based whole exome sequencing identified heterozygosity for a de novo missense variant of the alpha kinase 1 (ALPK1) gene [NM_025144.4:c.710C>T, NP_079420.3:p.(Thr237Met)] that was identical to a pathogenic variant known to be responsible for ROSAH syndrome. Cases of papillary edema and retinal dystrophy of unknown etiology that first arise in childhood should be pursued using genetic analysis and considering ROSAH syndrome as part of the differential diagnosis. Management in collaboration with the immunology department is essential.