Newswise — Roughly 50 families scattered across the world share ultra-rare variants in a particular gene. Silent for years, the inherited mutations make themselves known when patients reach the fourth decade of life. Changes in vision start a cascade of symptoms.
Five to 20 years later, the illness is fatal. Researchers at Washington University School of Medicine in St. Louis have dedicated many years to understanding the rare condition known as retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, or RVCL-S, with the aim of developing a treatment for it.
In a new study, the team reports that a drug approved by the FDA for another condition may stabilize vision for patients with RVCL-S. “Fifty percent of family members with these genetic mutations will inherit the disease,” said the study’s co-senior author, Rajendra S. Apte, MD, PhD , the Paul A.
Cibis Distinguished Professor of Ophthalmology & Visual Sciences . “These families are devastated by this illness, and we have not been able to offer them much hope. However, our new findings suggest that an already approved medication for a different disease may have the potential to help these patients, although additional studies are needed.
” The study is published June 17 in The Journal of Clinical Investigation. RVCL-S is marked by progressive vision loss, cognitive decline, dementia and mini strokes, among other neurological manifestations. In the 1980s, two physicians from Washington .
