Inherited retinal dystrophies/ degenerations (IRDs) are a clinically and genetically heterogenous group of rare eye diseases. Despite their low prevalence (~1:3000 individuals), IRDs are an important cause of severe visual impairment and blindness in children and young adults. Over the past three decades, major advances in molecular biology and human genetics have contributed to uncover the molecular basis of these disorders. Most excitingly, treatment of a particular form of congenital retinal degeneration is now possible. In December 2017, the Food and Drug Administration (FDA) approved voretigene neparvovec (Luxturna, Spark Therapeutics Inc.) to treat RPE65 mutation-associated retinal degeneration, which inevitably progresses to complete blindness by the third/fourth decade of life.
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