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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
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
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
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
Clinical Ophthalmology, ISSN 1177-5483, 07/2019, Volume 13, pp. 1379 - 1399
GP García-García,1 M Martínez-Rubio,1 MA Moya-Moya,1 JJ Pérez-Santonja,1 J Escribano2,31Department of Ophthalmology, General University Hospital of Alicante,... 
retinal deposits | corneal deposits | Bietti crystalline dystrophy | CYP4V2 gene
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2018, Volume 115, Issue 15, pp. 3936 - 3941
Journal Article
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 04/2018, Volume 115, Issue 15, pp. 3936 - 3941
Journal Article
Journal Article
Zhonghua Shiyan Yanke Zazhi/Chinese Journal of Experimental Ophthalmology, ISSN 2095-0160, 07/2018, Volume 36, Issue 7, pp. 559 - 563
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
The British journal of ophthalmology, ISSN 0007-1161, 02/2018, Volume 102, Issue 2, pp. 187 - 194
Journal Article
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 2015, Volume 3, Issue 1, pp. 14 - 29
Bietti's crystalline dystrophy (BCD) is a rare, autosomal recessive retinal degenerative disease associated with mutations in CYP4V2. In this study, we... 
4V2 | retinal dystrophy | CYP | Bietti | crystalline dystrophy | CYP4V2 | GENETICS & HEREDITY | Life Sciences | Human health and pathology | Original
Journal Article