Gene Augmentation for Autosomal Dominant CRX-Associated Retinopathies.

Abstract excerpt

The cone-rod homeobox (CRX) protein is a key transcription factor essential for photoreceptor function and survival. Mutations in human CRX gene are linked to a wide spectrum of blinding diseases ranging from mild macular dystrophy to severe Leber congenital amaurosis (LCA), cone-rod dystrophy (CRD), and retinitis pigmentosa (RP). These diseases are still incurable and mostly inherited in an autosomal dominant...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Retinal Diseases
• Share to Leber Congenital Amaurosis
• Share to Mutation
• Share to Photoreceptor Cells
• Share to Retinitis Pigmentosa