ROSAH syndrome
ROSAH syndrome is a rare genetic disorder characterised by Retinal dystrophy, Optic nerve edema, Splenomegaly, Anhidrosis and migraine Headache. Presentation. The main characteristics of this condition are retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and migraine headache. Other features include ocular inflammation, pancytopenia, recurrent infections and mild renal impairment. Genetics. This condition is caused by mutations in the ɑ-kinase gene ("ALPK1") gene. This gene is located on the long arm of chromosome 4 (4q25). The inheritance of this condition is autosomal dominant. Diagnosis. This diagnosis is made by sequencing the ALPK1 gene. Management. There is presently no  curative treatment. Management is supportive. Epidemiology. The prevalence is not known but this is considered to be a rare disease. Only twelve families have been described to date. History. This condition was first described in 2012 prior to the discovery of the genetics and naming of the condition. The genetic basis of this condition was first published in an ARVO abstract in 2013 and in a complete article in 2019.