
Early-onset Fuchs endothelial corneal dystrophy (FECD) has been associated with nonsynonymous mutations in collagen VIII α2 (COL8A2), a key extracellular matrix (ECM) protein in Descemet's membrane (DM). Two knock-in strains of mice have been generated to each express a mutant COL8A2 protein (Col8a2L450W/L450W and Col8a2Q455K/Q455K) that recapitulate the clinical phenotype of early-onset FECD including endothelial cell loss, cellular polymegathism and pleomorphism, and guttae. Due to abnormalities in ECM protein composition and structure in FECD, the stiffness of DM in Col8a2 knock-in mice and wildtype (WT) controls was measured using atomic force microscopy at 5 and 10 months of age, coinciding with the onset of FECD phenotypic abnormalities. At 5 months, only sporadic guttae were identified via in vivo confocal microscopy (IVCM) in Col8a2Q455K/Q455K mice, otherwise both strains of Col8a2 transgenic mice were indistinguishable from WT controls in terms of endothelial cell density and size. By 10 months of age, Col8a2L450W/L450W and Col8a2Q455K/Q455K mice developed reduced corneal endothelial density, increased endothelial cell area and guttae, with the Col8a2Q455K/Q455K strain exhibiting a more severe phenotype. However, at 5 months of age, prior to the development endothelial cell abnormalities, Col8a2L450W/L450W and Col8a2Q455K/Q455K mice knock-in mice had reduced tissue stiffness of DM that was statistically significant in the Col8a2Q455K/Q455K mice when compared with wildtype controls. These data indicate that alterations in the tissue compliance of DM precede phenotypic changes in endothelial cell count and morphology, and may play a role in onset and progression of FECD.
Male, Ophthalmology & Optometry (science-metrix), Cell Count, Medical Biochemistry and Metabolomics, Eye, Ophthalmology & Optometry, Microscopy, Atomic Force, Eye Disease and Disorders of Vision (rcdc), Transgenic, 3212 Ophthalmology and Optometry (for-2020), Collagen Type VIII (mesh), Corneal Endothelial Cell Loss (mesh), Cornea, Mice, Animals (mesh), 2.1 Biological and endogenous factors, Biomechanics, Confocal (mesh), Gene Knock-In Techniques, Aetiology, 32 Biomedical and Clinical Sciences (for-2020), Male (mesh), Ophthalmology and Optometry, Microscopy, Microscopy, Confocal, Endothelium, Corneal, Mice (mesh), Atomic Force, Biomechanical Phenomena (mesh), Biomechanical Phenomena, 3212 Ophthalmology and optometry (for-2020), Confocal, Corneal (mesh), Female, Descemet Membrane (mesh), 570, 1113 Opthalmology and Optometry (for), Elastic Modulus (mesh), Fuchs' Endothelial Dystrophy (mesh), Transgenic (mesh), 610, Fuchs, Mice, Transgenic, Collagen Type VIII, Endothelial, Eye (hrcs-hc), Opthalmology and Optometry, Elastic Modulus, Genetics, Animals, Endothelium, Descemet's membrane, Eye Disease and Disorders of Vision, Descemet Membrane, Animal (mesh), Biomedical and Clinical Sciences, Genetics (rcdc), Animal, Fuchs' Endothelial Dystrophy, Neurosciences, Corneal, 1101 Medical Biochemistry and Metabolomics (for), 2.1 Biological and endogenous factors (hrcs-rac), Corneal Endothelial Cell Loss, 1109 Neurosciences (for), Atomic Force (mesh), Cell Count (mesh), Gene Knock-In Techniques (mesh), Disease Models, Animal, Female (mesh), Disease Models
Male, Ophthalmology & Optometry (science-metrix), Cell Count, Medical Biochemistry and Metabolomics, Eye, Ophthalmology & Optometry, Microscopy, Atomic Force, Eye Disease and Disorders of Vision (rcdc), Transgenic, 3212 Ophthalmology and Optometry (for-2020), Collagen Type VIII (mesh), Corneal Endothelial Cell Loss (mesh), Cornea, Mice, Animals (mesh), 2.1 Biological and endogenous factors, Biomechanics, Confocal (mesh), Gene Knock-In Techniques, Aetiology, 32 Biomedical and Clinical Sciences (for-2020), Male (mesh), Ophthalmology and Optometry, Microscopy, Microscopy, Confocal, Endothelium, Corneal, Mice (mesh), Atomic Force, Biomechanical Phenomena (mesh), Biomechanical Phenomena, 3212 Ophthalmology and optometry (for-2020), Confocal, Corneal (mesh), Female, Descemet Membrane (mesh), 570, 1113 Opthalmology and Optometry (for), Elastic Modulus (mesh), Fuchs' Endothelial Dystrophy (mesh), Transgenic (mesh), 610, Fuchs, Mice, Transgenic, Collagen Type VIII, Endothelial, Eye (hrcs-hc), Opthalmology and Optometry, Elastic Modulus, Genetics, Animals, Endothelium, Descemet's membrane, Eye Disease and Disorders of Vision, Descemet Membrane, Animal (mesh), Biomedical and Clinical Sciences, Genetics (rcdc), Animal, Fuchs' Endothelial Dystrophy, Neurosciences, Corneal, 1101 Medical Biochemistry and Metabolomics (for), 2.1 Biological and endogenous factors (hrcs-rac), Corneal Endothelial Cell Loss, 1109 Neurosciences (for), Atomic Force (mesh), Cell Count (mesh), Gene Knock-In Techniques (mesh), Disease Models, Animal, Female (mesh), Disease Models
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