Glaucoma Cell Biology Laboratory
Department of Ophthalmology and Visual Sciences

 

Idiopathic Intracranial Hypertension

 







Elevated pressure of cerebrospinal fluid leads to RGC damage and degeneration


Idiopathic intracranial hypertension (IIH), also called pseudotumor cerebri, is a disorder of elevated intracranial pressure of unknown cause. It typically affects overweight women of childbearing age. The incidence of IIH is rising in parallel with the obesity epidemic. Most patients suffer from debilitating headaches. IIH also causes pressure on the optic nerve (papilledema), leading to ganglion cell death. Many patients experience visual loss which can be severe. Interventions to prevent loss of sight, all with unproven efficacy, include low-sodium and low-calorie diet, diuretics (acetazolamide), repeated spinal taps, optic nerve sheath fenestration surgery, and CSF shunting procedures.

The etiology of IIH has not been determined. Both the apparent sex-linked nature as well as the reported familial cases of IIH suggest that genetic factors may contribute to the development of the disease. In view of the strong association of IIH with energy storage metabolism and female sex, genomic variations of genes mediating these processes are most likely to affect an individual’s risk of developing IIH.

In collaboration with Dr. Michael Wall and the Neuro-Ophthalmology Research Disease Investigation Consortium (NORDIC) we evaluated genes that may be involved in the development of IIH in a cohort of patients and controls. In this case-control genetic association study we determined the frequencies of intragenic single nucleotide polymorphism (SNP) alleles in both groups and analyzed the data to identify both disease-causing mutations and IIH risk alleles.
This study was recently completed and a number of genetic variations were identified that may explain why some individuals are more likely to develop IIH. A manuscript detailing our findings can be downloaded here.

A brief overview of IIH can be found here

 

 

Image of a single retinal neuron

A retinal ganglion cell labeled with green fluorescent protein

Idiopathic Intracranial Hypertension Is a condition that, among other symptoms, leads to vision loss through RGC death.

 

Last Updated: