Mutational Spectrum of theZEB1Gene in Corneal Dystrophies Supports a Genotype–Phenotype Correlation
نویسندگان
چکیده
منابع مشابه
Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.
PURPOSE Mutations in ZEB1 have been reported in posterior polymorphous corneal dystrophy (PPCD3; MIM #609141) and Fuchs' endothelial corneal dystrophy (FECD6; MIM #613270). Although PPCD and keratoconus are clinically and pathologically distinct, PPCD has been associated with keratoconus, suggesting a common genetic basis. The purpose of our study was to perform mutational screening of the ZEB1...
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PURPOSE To investigate the molecular pathology underlying BIGH3-related corneal dystrophies (CDs) and to further delineate genotype-phenotype specificity. METHODS Sixty-one index patients with CDs were subjected to phenotypic and genotypic characterization. The corneal phenotypes of all patients were assessed by biomicroscopy and documented by slit lamp photography. The BIGH3 gene was amplifi...
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PURPOSE To analyze genotype-phenotype correlation in patients originating from Polish population with the transforming growth factor beta induced (TGFBI) corneal dystrophies. METHODS Sixty affected and 31 unaffected individuals from 15 unrelated Polish families were included in the study. The clinical diagnosis was based on the slit-lamp exam, 1310 nm time domain and 1310 nm swept source spec...
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The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value. Clinically, the corneal dystrophies can be divided into three groups based on the sole or predominant anatomical location of the abnormalities. Some affec...
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OBJECTIVE The aim was to compare the corneal topography and tomography parameters of macular corneal dystrophy (MCD), granular corneal dystrophy (GCD) and lattice corneal dystrophy (LCD) patients obtained by Scheimpflug imaging system. METHODS The charts, photographs and topography images of patients were reviewed retrospectively. This study included 73 eyes of 73 patients (28 MCD, 20 GCG and...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2013
ISSN: 1552-5783
DOI: 10.1167/iovs.13-11781