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fleck corneal-dystrophy (4) 4
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carbohydrate sulfotransferase gene (3) 3
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tgfbi bigh3 gene (3) 3
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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
Cornea, ISSN 0277-3740, 02/2015, 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 | Index Medicus
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
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
Cornea, ISSN 0277-3740, 03/2003, Volume 22, Issue 2, pp. 160 - 163
Journal Article
Journal Article
Human Genetics, ISSN 0340-6717, 5/2003, Volume 112, Issue 5, pp. 593 - 599
Francois-Neetens fleck (mouchetée) corneal dystrophy is an autosomal dominant corneal dystrophy characterized by scattered small white flecks occurring at all... 
GENETICS & HEREDITY | Chromosomes, Human, Pair 2 | Haplotypes | Humans | Corneal Dystrophies, Hereditary - genetics | Female | Male | Penetrance | Chromosome Mapping | Corneal Dystrophies, Hereditary - etiology | Genetic Linkage | chromosome 2 | Francois-Neetens fleck corneal dystrophy | Index Medicus
Journal Article
The Journal of Biological Chemistry, ISSN 0021-9258, 4/2011, Volume 286, Issue 15, pp. 13404 - 13413
Gene mutations in the phosphoinositide-metabolizing enzymes are linked to various human diseases. In mammals, PIKfyve synthesizes PtdIns(3,5)P 2 and PtdIns5P... 
PIKfyve | Embryo | Genetic Diseases | PIKfyve-ArPIKfyve-Sac3 Regulatory Complex | Mouse | Knock-out Mice | Gene Knock-out | Inositol Phospholipid | François-Neetens Fleck Corneal Dystrophy | Embryonic Lethality | Developmental Biology
Journal Article
Der Ophthalmologe, ISSN 0941-293X, 5/2012, Volume 109, Issue 5, pp. 487 - 490
Wir berichten über einen 36-jährigen Patienten, der sich mit einer bereits seit Jahren bestehenden zunehmenden, beidseitigen Visusminderung vorstellte.... 
Alport-Syndrom | Nephropathie | Dot and fleck retinopathy | Alport’s syndrome | Dot-fleck-Retinopathie | Polymorphic corneal dystrophy | Nephropathy | Medicine & Public Health | Visusminderung | Anterior lenticonus | Ophthalmology | Polymorphe korneale Dystrophie | Alport's syndrome
Journal Article
OPHTHALMOLOGE, ISSN 0941-293X, 05/2012, Volume 109, Issue 5, pp. 487 - 490
Journal Article
Cornea, ISSN 0277-3740, 11/1999, Volume 18, Issue 6, pp. 658 - 658
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 12/2000, Volume 21, Issue 4, pp. 217 - 225
Most patients with Alport syndrome have X-linked or autosomal recessive disease that is characterised by renal failure, hearing loss, and, in nearly 75% of the... 
Dot-and-fleck retinopathy | Autosomal dominant Alport syndrome | Corneal dystrophy | Fechtner syndrome | Anterior lenticonus
Journal Article
Acta Ophthalmologica, ISSN 0001-639X, 1983, Volume 61, Issue 4, pp. 514 - 528
Journal Article
European Journal of Ophthalmology, ISSN 1120-6721, 1994, Volume 4, Issue 2, pp. 123 - 125
Fleck dystrophy of the cornea is characterized by numerous, tiny, small opacities scattered throughout the entire corneal stroma. The mode of inheritance is... 
Fleck dystrophy | Cornea | Autosomal dominant inheritance | Corneal Dystrophies, Hereditary - pathology | Corneal Opacity - pathology | Pedigree | Humans | Adolescent | Adult | Female | Male | Visual Acuity | Corneal Opacity - genetics
Journal Article
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