title: The Genetics and Pathophysiology of IC3D Category 1 Corneal Dystrophies: A Review.
abstract: Corneal dystrophies are a group of inherited disorders affecting the cornea, many of which lead to visual impairment. The International Committee for Classification of Corneal Dystrophies has established criteria to clarify the status of the various corneal dystrophies, which include the knowledge of the underlying genetics. In this review, we discuss the International Committee for Classification of Corneal Dystrophies category 1 (second edition) corneal dystrophies, for which a clear genetic link has been established. We highlight the various mechanisms underlying corneal dystrophy pathology, including structural disorganization, instability or maladhesion, aberrant protein stability and deposition, abnormal cellular proliferation or apoptosis, and dysfunction of normal enzymatic processes. Understanding these genetic mechanisms is essential for designing targets for therapeutic intervention, especially in the age of gene therapy and gene editing.
authors.affiliation: From the *Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand; and †Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand.
authors.forename: Verity Frances
authors.initials: VF
authors.lastname: Oliver
authors.forename: Andrea Louise
authors.initials: AL
authors.lastname: Vincent
mesh_terms: D002448:Cell Adhesion / Q000502:physiology; D016923:Cell Death / Q000502:physiology; D049109:Cell Proliferation / Q000502:physiology; D003315:Cornea / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000145:classification / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D003319:Corneal Stroma / Q000473:pathology; D005136:Eye Proteins / Q000502:physiology; D006801:Humans; D038801:International Classification of Diseases
chemical_list: D005136:Eye Proteins