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congenital hereditary endothelial dystrophy 1 (4) 4
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epithelial recurrent erosion dystrophy (4) 4
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eye diseases (4) 4
fleck corneal dystrophy (4) 4
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meesmann corneal dystrophy (4) 4
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pre-descemet corneal dystrophy (4) 4
prenyltransferase (4) 4
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ubiad1 gene (4) 4
carbohydrate sulfotransferase gene (3) 3
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child, preschool (3) 3
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Biomedical and Pharmacology Journal, ISSN 0974-6242, 06/2013, Volume 6, Issue 1, pp. 49 - 50
Journal Article
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
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2008, Volume 146A, Issue 3, pp. 271 - 283
Journal Article
SCIENCE, ISSN 0036-8075, 06/2012, Volume 336, Issue 6086, pp. 1306 - 1310
Human UBIAD1 localizes to mitochondria and converts vitamin K-1 to vitamin K-2. Vitamin K-2 is best known as a cofactor in blood coagulation, but in bacteria... 
MENAQUINONE-4 | MULTIDISCIPLINARY SCIENCES | SCHNYDER | UBIAD1 GENE | MUTATIONS | DYSFUNCTION | IDENTIFICATION | DROSOPHILA-PINK1 | CRYSTALLINE CORNEAL-DYSTROPHY | PARKINSONS-DISEASE
Journal Article
Cornea, ISSN 0277-3740, 04/2004, Volume 23, Issue 3, pp. 311 - 313
OBJECTIVE:To emphasize the effectiveness of phototherapeutic keratectomy (PTK) in a patient with Schnyder crystalline corneal dystrophy (SCCD). METHODSCase... 
Schnyder crystalline corneal dystrophy | Corneal dystrophy | Phototherapeutic keratectomy | PTK | OPHTHALMOLOGY | corneal dystrophy | CONFOCAL MICROSCOPY | phototherapeutic keratectomy | Lasers, Excimer | Humans | Adult | Corneal Dystrophies, Hereditary - surgery | Female | Photorefractive Keratectomy - methods | Visual Acuity | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2008, Volume 146A, Issue 7, pp. 952 - 964
Schnyder crystalline corneal dystrophy (SCCD) is a rare autosomal dominant disease characterized by progressive corneal opacification resulting from abnormal... 
UBIAD1 | Schnyder crystalline corneal dystrophy | cornea | corneal dystrophy | phospholipids | prenyltransferase | hypercholesterolemia | ocular | eye | HDL | LDL | cholesterol | Schnyder corneal dystrophy | genetic disease | LOCALIZATION | ESCHERICHIA-COLI | LOCUS | APOLIPOPROTEIN-E | PREDICTION | HYPERLIPOPROTEINEMIA | SEQUENCE | GENETICS & HEREDITY | MUTATIONS | CHROMOSOME 1P34.1-P36
Journal Article
Journal of the Korean Ophthalmological Society, ISSN 0378-6471, 03/2010, Volume 51, Issue 3, pp. 440 - 446
Schnyder crystalline corneal dystrophy (SCCD) is an autosomal dominant disease characterized by progressive central corneal opacification and premature... 
Cornea | UBIAD1 | Schnyder corneal dystrophy | Schnyder crystalline corneal dystrophy | N102S
Journal Article
Klinische Monatsblatter fur Augenheilkunde, ISSN 0023-2165, 06/2016, Volume 233, Issue 6, pp. 708 - 712
Purpose: The first Oskar Fehr lecture is given in honour of Professor Fehr, a well respected ophthalmologist, who was head physician of the Department of Eye... 
genetic diseases | corneal dystrophy | genetic mutations | Schnyder corneal dystrophy | Schnyder crystalline corneal dystrophy | lipid | IC3D CLASSIFICATION | PRENYLTRANSFERASE | CORNEAL | DYSTROPHY | OPHTHALMOLOGY | UBIAD1 GENE | MUTATIONS
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
Romanian journal of ophthalmology, ISSN 2457-4325, 04/2018, Volume 62, Issue 2, pp. 175 - 180
to highlight the diagnostic and therapeutic challenges in a case with central and peripheral corneal lesions. We present the preoperative investigations:... 
Cornea - pathology | Corneal Dystrophies, Hereditary - diagnosis | Corneal Dystrophies, Hereditary - complications | Microscopy, Acoustic | Tomography, Optical Coherence | Humans | Index Medicus | Schnyder’s crystalline dystrophy | peripheral corneal degeneration | Case Reports
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
Journal Article