ROSAH syndrome is a genetic disease of innate immune activation. [1] ROSAH stands for retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis and headache. The name …

With ROSAH Syndrome, ALPK1 protein is sur-excited and causes inflammation. What are the symptoms? The main characteristics of the condition are: Eye issues (Retinal dystrophy, Optic …

Feb 13, 2023 · ROSAH syndrome is an autoinflammatory disease with a highly variable phenotype, including (in addition to the ROSAH-defining features) recurrent fever, cytopenias, …

What is ROSAH Syndrome? The name “ROSAH Syndrome’’ is derived from the complicated combination of symptoms that feature in this condition. It is predominantly an eye disease but …

In summary, ROSAH syndrome is a rare, autosomal dominant cause of retinal dystrophy, optic disc elevation, and intraocular inflammation. We report for the first time systematic deep …

From OMIM Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome (ROSAH) is an autosomal dominant disorder in which affected individuals …

ROSAH syndrome is an autoinflammatory disease caused by gain-of-function mutations in ALPK1 and some features of disease are amenable to immunomodulatory therapy. Keywords: …

Sep 1, 2023 · Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome (ROSAH) is an autosomal dominant disorder in which affected individuals …

Apr 27, 2023 · Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB–Mediated …

A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision …