Update on the Corneal Dystrophies—Genetic Testing and Therapy. Issue 11 (4th November 2022)

• Record Type: Journal Article
• Authors: Weiss, Jayne S.; Willoughby, Colin E.; Abad–Morales, Víctor; Turunen, Joni A.; Lisch, Walter
• Is Part Of: Cornea. Volume 41:Issue 11(2022)
• Page Start: 1337
• Page End: 1344
• Publication Date: 2022-11-04
• Subjects: corneal dystrophy -- hereditary corneal diseases -- gene therapy -- cornea; Cornea -- Periodicals; Cornea -- Periodicals; Cornée -- Périodiques; 617.719
• DOI: 10.1097/ICO.0000000000002857
• Languages: English
• ISSNs: 0277-3740

Abstract

Abstract: One major purpose of the IC3D Corneal Dystrophy Nomenclature Revision was to include genetic information with a goal of facilitating investigation into the pathogenesis, treatment, and perhaps even prevention of the corneal dystrophies, an ambitious goal. Over a decade has passed since the first publication of the IC3D Corneal Dystrophy Nomenclature Revision. Gene therapy is available for an early-onset form of inherited retinal degeneration called Leber congenital amaurosis, but not yet for corneal degenerations. We review the current state of affairs regarding our original ambitious goal. We discuss genetic testing, gene therapy [RNA interference (RNAi) and genome editing], and ocular delivery of corneal gene therapy for the corneal dystrophies. Why have gene therapy techniques not yet been introduced for the corneal dystrophies?