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Cornea, ISSN 0277-3740, 2015, Volume 34, Issue 2, pp. 117 - 159
PURPOSE:To update the 2008 International Classification of Corneal Dystrophies (IC3D) incorporating new clinical, histopathologic, and genetic information... 
Fleck corneal dystrophy | Cornea | Epithelial and subepithelial dystrophies | Descemetmembrane | Posterior amorphous corneal dystrophy | Confocal microscopy | Cornea pathology | Thiel-Behnke corneal dystrophy | Lattice corneal dystrophy | Macular corneal dystrophy | Stromal dystrophies | Hereditary disease | Epithelial basement membranedystrophy | Pre-Descemet corneal dystrophy | Histopathology | Keratoconus | Congenital corneal endothelial dystrophy and X-linked endothelialdystrophy | Bowman membrane | Subepithelialmucinous corneal dystrophy | Endothelial dystrophies | Genetics | Schnyder corneal dystrophy | Gelatinousdrop-like corneal dystrophy | Fuchsendothelial corneal dystrophy | Epithelial-stromal TGFBI dystrophies | Lisch epithelial corneal dystrophy | Stroma | Histology | Meesmann dystrophy | Epithelium | Endothelium | Genetic disease | Epithelial recurrent erosion dystrophies | Posteror polymorphous corneal dystrophy | Centralcloudy dystrophy of François | Granular corneal dystrophy type 1 | Granular corneal dystrophy type 2 | TGFBI | Reis-Bücklers corneal dystrophy | Congenital stromal corneal dystrophy | Cornea dystrophy | cornea | endothelial dystrophies | histology | epithelial basement membrane dystrophy | genetic disease | epithelial and subepithelial dystrophies | central cloudy dystrophy of Francois | macular corneal dystrophy | subepithelial mucinous corneal dystrophy | cornea pathology | stroma | FRANCOIS | congenital corneal endothelial dystrophy and X-linked endothelial dystrophy | posteror polymorphous corneal dystrophy | DISEASE | epithelium | Fuchs endothelial corneal dystrophy | lattice corneal dystrophy | Reis-Bucklers corneal dystrophy | pre-Descemet corneal dystrophy | histopathology | INDIVIDUAL PHENOTYPIC VARIANCES | FAMILY | epithelial recurrent erosion dystrophies | granular corneal dystrophy type 1 | granular corneal dystrophy type 2 | genetics | cornea dystrophy | UBIAD1 GENE | MUTATIONS | Descemet membrane | endothelium | hereditary disease | epithelial-stromal TGFBI dystrophies | keratoconus | posterior amorphous corneal dystrophy | congenital stromal corneal dystrophy | stromal dystrophies | fleck corneal dystrophy | confocal microscopy | gelatinous drop-like corneal dystrophy | EDEMA | OPHTHALMOLOGY | LINKAGE | Corneal Dystrophies, Hereditary - genetics | Terminology as Topic | International Classification of Diseases | Corneal Dystrophies, Hereditary - classification | Corneal Dystrophies, Hereditary - pathology | Humans
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2009, Volume 4, Issue 1, pp. 7 - 7
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea... 
Corneal Dystrophies, Hereditary - genetics | Corneal Dystrophies, Hereditary - surgery | Corneal Dystrophies, Hereditary - pathology | Corneal Dystrophies, Hereditary - etiology | Humans | Corneal diseases | Development and progression | Care and treatment | Genetic aspects | Diagnosis | Risk factors
Journal Article
Nature communications, ISSN 2041-1723, 2018, Volume 9, Issue 1, pp. 1864 - 11
... (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana... 
DECORIN | CHROMATIN STATES | POLYMORPHISMS | RISK-FACTOR | MULTIDISCIPLINARY SCIENCES | MOUSE | GENE-EXPRESSION | MUTATIONS | HERITABILITY | LUMICAN | KERATOCONUS | Lumican - metabolism | Glaucoma, Open-Angle - genetics | Humans | Corneal Diseases - metabolism | Corneal Dystrophies, Hereditary - ethnology | Corneal Diseases - genetics | Ehlers-Danlos Syndrome - genetics | Corneal Dystrophies, Hereditary - pathology | Loeys-Dietz Syndrome - metabolism | Mendelian Randomization Analysis | Fibrillin-1 - metabolism | Cornea - pathology | Keratoconus - pathology | Corneal Diseases - pathology | Decorin - genetics | Gene Expression | Eye Diseases, Hereditary - pathology | Lumican - genetics | ADAMTS Proteins - metabolism | Proteoglycans - metabolism | Ehlers-Danlos Syndrome - ethnology | European Continental Ancestry Group | Myopia - pathology | Cornea - metabolism | Myopia - ethnology | Loeys-Dietz Syndrome - pathology | Corneal Diseases - ethnology | Marfan Syndrome - metabolism | Marfan Syndrome - pathology | Cornea - abnormalities | Quantitative Trait Loci | Proteoglycans - genetics | ADAMTS Proteins - genetics | Transforming Growth Factor beta2 - metabolism | Corneal Dystrophies, Hereditary - genetics | Glaucoma, Open-Angle - pathology | Keratoconus - metabolism | Loeys-Dietz Syndrome - ethnology | Glaucoma, Open-Angle - ethnology | Myopia - metabolism | Ehlers-Danlos Syndrome - pathology | Marfan Syndrome - ethnology | Keratoconus - genetics | Glaucoma, Open-Angle - metabolism | Fibrillin-1 - genetics | Eye Diseases, Hereditary - ethnology | Genome-Wide Association Study | Quantitative Trait, Heritable | Corneal Dystrophies, Hereditary - metabolism | Marfan Syndrome - genetics | Eye Diseases, Hereditary - genetics | Myopia - genetics | Asian Continental Ancestry Group | Keratoconus - ethnology | Ehlers-Danlos Syndrome - metabolism | Loeys-Dietz Syndrome - genetics | Polymorphism, Single Nucleotide | Transforming Growth Factor beta2 - genetics | Genome, Human | Decorin - metabolism | Eye Diseases, Hereditary - metabolism | Glaucoma | Cornea | Genes | Myopia | Association analysis | Genomes | Gene expression | Tissues | Connective tissues | Keratoconus | Collagen | Eye diseases | Extracellular matrix
Journal Article
Journal Article
Clinical Genetics, ISSN 0009-9163, 08/2013, Volume 84, Issue 2, pp. 109 - 119
The aim of this review was to provide an evidenced‐based review of the genetic basis of the corneal endothelial dystrophies... 
corneal dystrophy, Fuchs endothelial, 2 | corneal dystrophy, Fuchs endothelial, early onset | corneal dystrophy, Fuchs endothelial, 1 | corneal endothelial dystrophy 1 | corneal endothelial dystrophy 2 | corneal dystrophy, Fuchs endothelial, late onset | corneal dystrophy, posterior polymorphous, 2 | corneal dystrophy, posterior polymorphous, 3 | corneal dystrophy, posterior polymorphous, 1 | Corneal dystrophy, Fuchs endothelial, early onset | Corneal dystrophy, posterior polymorphous, 1 | Corneal dystrophy, posterior polymorphous, 3 | Corneal dystrophy, posterior polymorphous, 2 | Corneal dystrophy, Fuchs endothelial, 1 | Corneal dystrophy, Fuchs endothelial, 2 | Corneal dystrophy, Fuchs endothelial, late onset | Corneal endothelial dystrophy 2 | Corneal endothelial dystrophy 1 | SLC4A11 GENE | posterior polymorphous | early onset | PENETRATING KERATOPLASTY | CANDIDATE GENES | corneal dystrophy | LOCUS | MISSENSE MUTATIONS | COL8A2 GENE | Fuchs endothelial | VIII COLLAGEN | POSTERIOR POLYMORPHOUS DYSTROPHY | GENETICS & HEREDITY | late onset | LINKAGE | SAUDI-ARABIA | Corneal Dystrophies, Hereditary - genetics | Corneal Dystrophies, Hereditary - diagnosis | Evidence-Based Medicine | Humans | Genetic aspects | Genetic disorders | Gene mutations | Endothelium | Corneal Dystrophy, Posterior Polymorphous, 3 | Corneal Dystrophy, Posterior Polymorphous, 2 | Corneal Dystrophy, Fuchs Endothelial, 2 | Corneal Dystrophy, Fuchs Endothelial, Late-Onset | Corneal Endothelial Dystrophy 1 | Corneal Endothelial Dystrophy 2 | Corneal Dystrophy, Fuchs Endothelial, 1 | Corneal Dystrophy, Posterior Polymorphous,1 | Corneal Dystrophy, Fuchs Endothelial, Early-Onset
Journal Article
Experimental Eye Research, ISSN 0014-4835, 02/2012, Volume 95, Issue 1, pp. 24 - 34
The phrase “corneal endothelial dystrophies” embraces a group of bilateral corneal conditions that are characterized by a non-inflammatory and progressive degradation of corneal endothelium... 
posterior polymorphous corneal dystrophy (PPCP) | congenital hereditary endothelial dystrophy (CHED) | genetics | fuchs endothelial corneal dystrophy (FECD) | guttae | apoptosis | oxidative stress | sodium biocarbonate transporter-like protein 11 (SLC4A11) | Oxidative stress | Congenital hereditary endothelial dystrophy (CHED) | Posterior polymorphous corneal dystrophy (PPCP) | Genetics | Fuchs endothelial corneal dystrophy (FECD) | Guttae | Apoptosis | Sodium biocarbonate transporter-like protein 11 (SLC4A11) | CONFOCAL MICROSCOPY | SLC4A11 MUTATIONS | MISSENSE MUTATIONS | CLUSTERIN EXPRESSION | CELL-DEATH | UNFOLDED PROTEIN RESPONSE | POSTERIOR POLYMORPHOUS DYSTROPHY | GENE-EXPRESSION | OPHTHALMOLOGY | FUCHS COMBINED DYSTROPHY | Amino Acid Sequence | Fuchs' Endothelial Dystrophy - genetics | Genetic Predisposition to Disease | Endothelial Cells - metabolism | Humans | Risk Factors | Corneal Dystrophies, Hereditary - genetics | Molecular Sequence Data | Heredity | Corneal Dystrophies, Hereditary - metabolism | Fuchs' Endothelial Dystrophy - pathology | Phenotype | Animals | Cornea - blood supply | Corneal Dystrophies, Hereditary - pathology | Eye Proteins - metabolism | Pedigree | Eye Proteins - genetics | Mutation | Endothelial Cells - pathology | Fuchs' Endothelial Dystrophy - metabolism | Antioxidants | Genetic disorders | Genes | Sodium bicarbonate | Superoxide | Ophthalmology | Carbonates | Endothelium | Congenital Hereditary Endothelial Dystrophy (CHED) | Sodium Biocarbonate Transporter-like Protein 11 (SLC4A11) | Posterior Polymorphous Corneal Dystrophy (PPCP) | Fuchs Endothelial Corneal Dystrophy (FECD)
Journal Article
Structure, ISSN 0969-2126, 11/2017, Volume 25, Issue 11, pp. 1740 - 1750.e2
A major cause of visual impairment, corneal dystrophies result from accumulation of protein deposits in the cornea... 
extracellular matrix protein | cysteine-rich CROPT domain | multi-domain protein | pathological mutants | crystal structure | corneal dystrophy | fasciclin FAS1 domain | GENOTYPE-PHENOTYPE CORRELATION | WILD-TYPE | EXON 14 | KERATO-EPITHELIN MUTATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL BIOLOGY | BIOPHYSICS | STRUCTURE VALIDATION | BETA-IG-H3 | CHINESE PATIENTS | BIGH3 GENE-MUTATIONS | LATTICE | ASSOCIATION | Protein Aggregates | Humans | Integrins - chemistry | Corneal Dystrophies, Hereditary - genetics | Integrins - genetics | Crystallography, X-Ray | Transforming Growth Factor beta - chemistry | Integrins - metabolism | Corneal Dystrophies, Hereditary - pathology | Cloning, Molecular | HEK293 Cells | Protein Interaction Domains and Motifs | Binding Sites | Protein Aggregation, Pathological - genetics | Extracellular Matrix Proteins - metabolism | Recombinant Proteins - metabolism | Amino Acid Sequence | Protein Conformation, alpha-Helical | Extracellular Matrix Proteins - chemistry | Gene Expression | Genetic Vectors - chemistry | Extracellular Matrix Proteins - genetics | Genetic Vectors - metabolism | Models, Molecular | Recombinant Proteins - chemistry | Recombinant Proteins - genetics | Corneal Dystrophies, Hereditary - metabolism | Sequence Homology, Amino Acid | Sequence Alignment | Transforming Growth Factor beta - genetics | Protein Conformation, beta-Strand | Protein Binding | Mutation | Transforming Growth Factor beta - metabolism | Protein Aggregation, Pathological - metabolism
Journal Article