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CORNEA, ISSN 0277-3740, 12/2008, Volume 27, Issue 10, pp. S1 - S42
Background: The recent availability of genetic analyses has demonstrated the shortcomings of the current phenotypic method of corneal dystrophy classification.... 
Grayson-Wilbrandt corneal dystrophy | Meesmann corneal dystrophy | TGFBI BIGH3 GENE | pre-Descemet corneal dystrophy | GROENOUW TYPE-I | corneal histopathology | GELSOLIN-RELATED AMYLOIDOSIS | Thiel-Behnke corneal dystrophy | posterior polymorphous corneal dystrophy | epithelial basement membrane dystrophy | POSTERIOR POLYMORPHOUS DYSTROPHY | granular corneal dystrophy 2 | COMPOUND HETEROZYGOUS MUTATIONS | granular corneal dystrophy 1 | genetic corneal disease | Schnyder corneal dystrophy | inherited corneal disease | WHORLED MICROCYSTIC DYSTROPHY | congenital hereditary endothelial dystrophy 1 | congenital hereditary endothelial dystrophy 2 | posterior amorphous corneal dystrophy | central cloudy dystrophy of Francois | macular corneal dystrophy | Schnyder crystalline corneal dystrophy | congenital stromal corneal dystrophy | gene | subepithelial mucinous corneal dystrophy | VIVO CONFOCAL MICROSCOPY | CENTRAL CLOUDY DYSTROPHY | Lisch epithelial corneal dystrophy | corneal dystrophy | eponym | X-linked endothelial corneal dystrophy | mutation | key reference | CARBOHYDRATE SULFOTRANSFERASE GENE | fleck corneal dystrophy | HEREDITARY ENDOTHELIAL DYSTROPHY | epithelial recurrent erosion dystrophy | gelatinous drop-like corneal dystrophy | OPHTHALMOLOGY | Avellino corneal dystrophy | lattice gelsolin type dystrophy | Fuchs endothelial corneal dystrophy | lattice corneal dystrophy | Reis-Bucklers corneal dystrophy
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2012, Volume 7, Issue 11, pp. e49083 - e49083
Fuchs endothelial corneal dystrophy (FECD) is a common, familial disease of the corneal endothelium and is the leading indication for corneal transplantation.... 
PATHOGENESIS | APOPTOSIS | CTG REPEAT | UNFOLDED PROTEIN RESPONSE | MENTAL-RETARDATION | ENDOTHELIAL DYSTROPHY | MULTIDISCIPLINARY SCIENCES | INHERITANCE | PITT-HOPKINS-SYNDROME | MISSENSE MUTATIONS | HAPLOINSUFFICIENCY | Blotting, Southern | Fuchs' Endothelial Dystrophy - genetics | Genetic Predisposition to Disease | Reproducibility of Results | Transcription Factor 4 | Humans | Middle Aged | Molecular Sequence Data | Male | Transcription Factors - genetics | Sequence Analysis, DNA | Case-Control Studies | Genome, Human - genetics | Microsatellite Repeats - genetics | Base Sequence | Alleles | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics | Aged, 80 and over | Trinucleotide Repeat Expansion - genetics | Female | Aged | Chromosomes, Human, Pair 18 - genetics | Genetic aspects | Single nucleotide polymorphisms | Genes | Analysis | Cornea | Transcription factors | Laboratories | Intellectual disabilities | Pathogenesis | Transplantation | Biochemistry | Single-nucleotide polymorphism | Kinases | Gene sequencing | Proteins | Primers | DNA repeat expansion | Southern blotting | Expansion | Chromosomes | Deoxyribonucleic acid--DNA | Edema | Health risks | Data processing | Patients | Endothelium | White blood cells | Corneal dystrophy | Dystrophy | Genetic testing | Molecular biology | DNA sequencing | Apoptosis | Polymorphism | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, ISSN 0023-2165, 01/2011, Volume 228, pp. S1 - S39
Background: The recent availability of genetic analyses has demonstrated the shortcomings of the current phenotypic method of corneal dystrophy classification.... 
Grayson-Wilbrandt corneal dystrophy | Meesmann corneal dystrophy | TGFBI BIGH3 GENE | pre-Descemet corneal dystrophy | central cloudy dystrophy of Francxois | corneal histopathology | GELSOLIN-RELATED AMYLOIDOSIS | Thiel-Behnke corneal dystrophy | epithelial basement membrane dystrophy | POSTERIOR POLYMORPHOUS DYSTROPHY | granular corneal dystrophy 2 | COMPOUND HETEROZYGOUS MUTATIONS | granular corneal dystrophy 1 | genetic corneal disease | Schnyder corneal dystrophy | inherited corneal disease | WHORLED MICROCYSTIC DYSTROPHY | congenital hereditary endothelial dystrophy 1 | congenital hereditary endothelial dystrophy 2 | posterior amorphous corneal dystrophy | HELIX TERMINATION MOTIF | macular corneal dystrophy | Schnyder crystalline corneal dystrophy | congenital stromal corneal dystrophy | gene | subepithelial mucinous corneal dystrophy | VIVO CONFOCAL MICROSCOPY | CENTRAL CLOUDY DYSTROPHY | Lisch epithelial corneal dystrophy | corneal dystrophy | eponym | Fuchs endothelial corneal dystrophy posterior | X-linked endothelial corneal dystrophy | mutation | key reference | CARBOHYDRATE SULFOTRANSFERASE GENE | fleck corneal dystrophy | HEREDITARY ENDOTHELIAL DYSTROPHY | epithelial recurrent erosion dystrophy | gelatinous drop-like corneal dystrophy | polymorphous corneal dystrophy | OPHTHALMOLOGY | Avellino corneal dystrophy | lattice gelsolin type dystrophy | lattice corneal dystrophy | Reis-Bucklers corneal dystrophy
Journal Article
PLoS ONE, ISSN 1932-6203, 2010, Volume 5, Issue 5, pp. e10760 - e10760
Background: Mutations in a novel gene, UBIAD1, were recently found to cause the autosomal dominant eye disease Schnyder corneal dystrophy (SCD). SCD is... 
PROTEIN STRUCTURES | CHOLESTEROL | GENE | METABOLISM | MEMBRANE | MULTIDISCIPLINARY SCIENCES | ESCHERICHIA-COLI | CRYSTALLINE DYSTROPHY | TOPOLOGY PREDICTION | BLADDER | TRANSFERASE | Mitochondria - enzymology | Demography | Cornea - enzymology | Humans | Corneal Dystrophies, Hereditary - enzymology | Corneal Dystrophies, Hereditary - genetics | Molecular Sequence Data | Corneal Dystrophies, Hereditary - pathology | Dimethylallyltranstransferase - genetics | Mitochondria - genetics | DNA Mutational Analysis | Base Sequence | Conserved Sequence | Cornea - pathology | Amino Acid Sequence | Models, Molecular | Linear Models | Mutant Proteins - metabolism | Cholesterol - metabolism | Mutation - genetics | Amino Acids | Protein Transport | Proteins - genetics | Mutant Proteins - chemistry | Family | Proteins - chemistry | Immunohistochemistry | Wildlife conservation | Metabolites | Analysis | Physiological aspects | Lipids | Eye diseases | Amino acids | Genetic aspects | Ophthalmology | Native Americans | Biotechnology | Cornea | Antibodies | Homology | Leukocytes (mononuclear) | Viruses | Biochemistry | Phospholipids | Urology | Genetic algorithms | Proteins | Mitochondria | Surgery | Peripheral blood mononuclear cells | Docking | Modelling | Lipid metabolism | Lesions | Localization | Age | Enzymes | Computer simulation | Lymphoblastoid cell lines | Inflammation | Metabolism | Phenolic compounds | Minority & ethnic groups | Substrates | Cholesterol | Membrane proteins | Medicine | Molecular modelling | Corneal dystrophy | Phenols | Mutation | Dystrophy | Position (location) | Protein structure | Binding sites | Cancer | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2007, Volume 2, Issue 8, pp. e685 - e685
Journal Article
Human Mutation, ISSN 1059-7794, 06/2019, Volume 40, Issue 6, pp. 675 - 693
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 12, pp. e28582 - e28582
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2014, Volume 9, Issue 4, pp. e95037 - e95037
Journal Article
Cornea, ISSN 0277-3740, 12/2008, Volume 27 Suppl 2, Issue Suppl 2, pp. S1 - S42
The recent availability of genetic analyses has demonstrated the shortcomings of the current phenotypic method of corneal dystrophy classification.... 
Corneal Dystrophies, Hereditary - history | Ophthalmology - trends | Phenotype | Corneal Dystrophies, Hereditary - pathology | Humans | Corneal Dystrophies, Hereditary - genetics | Terminology as Topic | History, 19th Century | International Cooperation | Corneal Dystrophies, Hereditary - classification | Grayson-Wilbrandt corneal dystrophy | Meesmann corneal dystrophy | pre-Descemet corneal dystrophy | corneal histopathology | Thiel-Behnke corneal dystrophy | posterior polymorphous corneal dystrophy | epithelial basement membrane dystrophy | granular corneal dystrophy 2 | granular corneal dystrophy 1 | genetic corneal disease | Schnyder corneal dystrophy | inherited corneal disease | congenital hereditary endothelial dystrophy 1 | congenital hereditary endothelial dystrophy 2 | posterior amorphous corneal dystrophy | central cloudy dystrophy of François | macular corneal dystrophy | Schnyder crystalline corneal dystrophy | congenital stromal corneal dystrophy | gene | subepithelial mucinous corneal dystrophy | Lisch epithelial corneal dystrophy | corneal dystrophy | eponym | X-linked endothelial corneal dystrophy | mutation | key reference | fleck corneal dystrophy | epithelial recurrent erosion dystrophy | gelatinous drop-like corneal dystrophy | Avellino corneal dystrophy | lattice gelsolin type dystrophy | Fuchs endothelial corneal dystrophy | lattice corneal dystrophy | Reis-Bücklers corneal dystrophy
Journal Article
KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, ISSN 0023-2165, 02/2011, Volume 228, pp. S1 - S39
Background: The recent availability of genetic analyses has demonstrated the shortcomings of the current phenotypic method of corneal dystrophy classification.... 
Grayson-Wilbrandt corneal dystrophy | Meesmann corneal dystrophy | TGFBI BIGH3 GENE | pre-Descemet corneal dystrophy | 2. X-linked endothelial corneal dystrophy | central cloudy dystrophy of Francxois | corneal histopathology | GELSOLIN-RELATED AMYLOIDOSIS | Thiel-Behnke corneal dystrophy | posterior polymorphous corneal dystrophy | epithelial basement membrane dystrophy | POSTERIOR POLYMORPHOUS DYSTROPHY | granular corneal dystrophy 2 | COMPOUND HETEROZYGOUS MUTATIONS | granular corneal dystrophy 1 | genetic corneal disease | Schnyder corneal dystrophy | inherited corneal disease | WHORLED MICROCYSTIC DYSTROPHY | congenital hereditary endothelial dystrophy 1 | posterior amorphous corneal dystrophy | HELIX TERMINATION MOTIF | macular corneal dystrophy | Schnyder crystalline corneal dystrophy | congenital stromal corneal dystrophy | gene | subepithelial mucinous corneal dystrophy | VIVO CONFOCAL MICROSCOPY | CENTRAL CLOUDY DYSTROPHY | Lisch epithelial corneal dystrophy | corneal dystrophy | eponym | congenital hereditary endothelial dystrophy | mutation | key reference | CARBOHYDRATE SULFOTRANSFERASE GENE | fleck corneal dystrophy | HEREDITARY ENDOTHELIAL DYSTROPHY | epithelial recurrent erosion dystrophy | gelatinous drop-like corneal dystrophy | OPHTHALMOLOGY | Avellino corneal dystrophy | lattice gelsolin type dystrophy | Fuchs endothelial corneal dystrophy | lattice corneal dystrophy | Reis-Bucklers corneal dystrophy
Journal Article
Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, ISSN 0365-0294, 12/2017, Volume 105, Issue 2
A 1-year-old female Cocker Spaniel dog was examined at the ophthalmology service of the Veterinary Teaching Hospital - University of Messina (Italy) for... 
eye | dystrophy | cornea | dog | inherited
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Journal Article