Success Story: Exciting Discoveries re: Two Rare Children’s Blinding Diseases

Researchers at Children’s Hospital have made exciting discoveries in two related rare children’s blinding diseases: Familial Exudative VitreoRetinopathy (FEVR) and Norrie disease. Both diseases share similar symptoms of abnormal leaky blood vessels in the eye that can steal a child’s eyesight early in life. The research team found that defective genes damage junctions in the blood vessel cells that normally act as glue to seal and protect blood vessels. When the seal is damaged, fluid leaks out from blood vessels to surrounding tissues, harming neurons necessary for vision, hearing and brain functions. These important new findings are the next important step toward eliminating blindness and disability caused by these two rare but devastating diseases.