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 2019.