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Blindness to Sight: Hannah R.'s Story

Before she was 7, Hannah had never seen a star. Then she had a breakthrough treatment at Children's Hospital of Philadelphia. http://giving.chop.edu 0:23 A diagnosis of Leber’s congenital amaurosis (LCA) 1:02 Raising a child who is legally blind 1:53 A gene therapy clinical trial at CHOP 2:04 How Luxturna works 2:25 After receiving Luxturna at CHOP 3:31 Seeing a star for the first time Hannah was born with Leber congenital amaurosis (LCA), a rare inherited retinal disease. Patients with LCA have very limited vision and eventually — usually in their 20s or 30s — become completely blind. She was diagnosed at Children's Hospital of Philadelphia as an infant. Genetic testing revealed Hannah had a type of LCA caused by mutations in the RPE65 gene. The news gave her parents hope: They had recently learned of a research trial underway at CHOP and Penn Medicine testing a gene therapy for patients with LCA caused by RPE65 mutations. In 2017, the treatment became the first approved gene therapy for an inherited disease approved in the United States. Hannah had the treatment in the summer of 2018 and her vision improved immediately, from 20/200 to 20/80. Today she can ride her bike, catch fireflies and see stars in the night sky.