Genetics of Idiopathic Intracranial Hypertension

Evidence suggests a genetic predisposition for idiopathic intracranial hypertension. Corbett et. al. described 27 patients with either definitive or probable IIH from eleven ascertained families. This demonstrates that IIH clusters in families. Additionally the IIH treatment trial (IIHTT) reported that 5% of the 165 patients studied had a family member with IIH. To date, no one has performed a rigorous genetic analysis of family members with IIH to better identify IIH-related genes and the potential contribution of genetics to the pathogenesis of this disease. We are conducting whole exome sequencing (WES) on DNA from the members of a large family with IIH in order to elucidate a potential genetic cause.