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Update on the Corneal Dystrophies-Genetic Testing and Therapy. 2022

Jayne S Weiss, and Colin E Willoughby, and Víctor Abad-Morales, and Joni A Turunen, and Walter Lisch
Department of Ophthalmology, Pathology and Pharmacology, Louisiana State University School of Medicine, New Orleans, LA.

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?

UI MeSH Term Description Entries
D003315 Cornea The transparent anterior portion of the fibrous coat of the eye consisting of five layers: stratified squamous CORNEAL EPITHELIUM; BOWMAN MEMBRANE; CORNEAL STROMA; DESCEMET MEMBRANE; and mesenchymal CORNEAL ENDOTHELIUM. It serves as the first refracting medium of the eye. It is structurally continuous with the SCLERA, avascular, receiving its nourishment by permeation through spaces between the lamellae, and is innervated by the ophthalmic division of the TRIGEMINAL NERVE via the ciliary nerves and those of the surrounding conjunctiva which together form plexuses. (Cline et al., Dictionary of Visual Science, 4th ed) Corneas
D003317 Corneal Dystrophies, Hereditary Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect. Corneal Dystrophies,Granular Dystrophy, Corneal,Groenouw's Dystrophies,Macular Dystrophy, Corneal,Stromal Dystrophies, Corneal,Corneal Dystrophy,Corneal Dystrophy, Hereditary,Corneal Granular Dystrophies,Corneal Granular Dystrophy,Corneal Macular Dystrophies,Corneal Macular Dystrophy,Corneal Stromal Dystrophies,Corneal Stromal Dystrophy,Dystrophy, Corneal,Dystrophy, Corneal Granular,Dystrophy, Corneal Macular,Dystrophy, Corneal Stromal,Dystrophy, Hereditary Corneal,Groenouw Dystrophies,Groenouws Dystrophies,Hereditary Corneal Dystrophies,Hereditary Corneal Dystrophy,Stromal Dystrophy, Corneal
D005820 Genetic Testing Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing. Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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