Genetic Finding Sheds Light on Diseases Causing Blood Vessel Breakdown, Washington University in St. Louis Study

Published: Jul 30, 2007

Twenty-one years after they first described a fatal genetic disorder in Missouri and Arkansas families, scientists at Washington University School of Medicine in St. Louis have linked the condition to mutations in a gene known as TREX1. The study appears online in Nature Genetics. The identification will accelerate efforts to understand and treat retinal vasculopathy with cerebral leukodystrophy (RVCL), a rare condition that usually goes unrecognized or is misdiagnosed. In Asian and Caucasian patients with the disease, a complex and ultimately fatal barrage of primarily central nervous system symptoms begins around age 45 that includes vision loss, mini-strokes and dementia. The symptoms can also mimic a brain tumor or multiple sclerosis. After onset, RVCL is fatal in 10 years or less.

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