Update on the Corneal Dystrophies-Genetic Testing and Therapy

Jayne S Weiss, Colin E Willoughby, Víctor Abad-Morales, Joni A Turunen, Walter Lisch

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)
32 Downloads (Pure)


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? [Abstract copyright: Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.]
Original languageEnglish
Pages (from-to)1337-1344
Number of pages8
Issue number11
Early online date4 Jul 2022
Publication statusPublished (in print/issue) - 30 Nov 2022

Bibliographical note

Funding Information:
We appreciate the support of the Louisiana Lions Eye Foundation. We thank Charlotte Willoughby for producing Figures 5 and 6 using Biorender.

Publisher Copyright:
© 2022 Lippincott Williams and Wilkins. All rights reserved.


  • corneal dystrophy
  • hereditary corneal diseases
  • gene therapy
  • cornea


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