Vascular Fundus Changes in Patients With High Probability of Chronic Cerebrospinal Venous Insufficiency (CCSVI)

study id #: NCT01356134

condition: Ehlers-Danlos Syndrome, Multiple Sclerosis

status: completed

The investigators propose that evidence of chronic cerebrospinal venous insufficiency (CCSVI) may be evident in the vasculature of the fundus. The investigators will be examining fundi of multiple sclerosis patients and Ehlers-Danlos patients to see if evidence of CCSVI can be found in these patients having high risk for CCSVI. The investigators will read the fundus photos, compared to age-matched normals in a “blind” fashion.

start date: May 2011

estimated completion: April 2015

last updated: April 3, 2015

phase of development: N/A

size / enrollment: 60

study design: Observational Model: Case Control
Time Perspective: Cross-Sectional

study description: Chronic Cerebrospinal Venous Insufficiency (CCSVI) has been proposed as the cause of numerous neurodegenerative diseases of the brain. CCSVI is the result of poor drainage of blood (and cerebral spinal fluid to some degree) from weakened or stenosed veins usually located in the cervical area (most notably the internal jugular veins). Although current focus and treatment of CCSVI is on multiple sclerosis, CCSVI has also been implicated as a potential cause of Alzheimer's disease and Parkinson's Disease. Additionally, patients with Ehlers-Danlos Syndrome (EDS) -- a disorder of connective tissue -- are more prone to developing multiple sclerosis than the general population. Many EDS patients are known to have weakened and abnormal blood vessels and 40 - 70% of EDS patients develop autonomic dysfunction in addition to numerous other symptoms found in patients with CCSVI. In the small subset of EDS and multiple sclerosis patients seen at Total Eye Care, the investigators have noticed a vascular irregularity (using the optomap® and examining the results under high magnification) which offers credence to the theory of CCSVI. Such objective data has been elusive, excepting for fMRI, ultrasound (to a limited degree) and venous angioplasty results. Current treatment of CCSVI involves the ballooning and sometimes stenting, of abnormally stenosed veins. The treatment of CCSVI offers hope to many patients suffering from multiple sclerosis. Although CCSVI research is in its infancy, many doctors believe that CCSVI is a significant portion of the solution to patients with neurodegenerative diseases of the brain. Because CCSVI is a vascular disorder, the investigators hypothesize that the investigators are able to screen candidates for CCSVI via the optomap®.

primary outcomes:

• Fundus: venous engorgement/beading [ Time Frame:Baseline ]
  Abnormal vessel appearance in fundi may include venous engorgement and beading

inclusion criteria: - age matched normals
- patients with diagnosed or suspected Ehlers-Danlos Syndrome and/or diagnosed or suspected Multiple Sclerosis ("CIS")

exclusion criteria: - diabetics and patients unable to sit in position for testing are excluded

sponsor: Genetic Disease Investigators

investigators: Study Director: Diana L Driscoll, O.D. Genetic Disease Investigators
Principal Investigator: Richard A Driscoll, O.D. Genetic Disease Investigators
Study Chair: Clair A Francomano, M.D. Harvey Institute for Human Genetics

locations: United States