Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy

Objective To provide a detailed phenotype/genotype characterization of Bietti crystalline dystrophy (BCD). Design Observational case series. Participants Twenty patients from 17 families recruited from a multiethnic British population. Methods Patients underwent color fundus photography, near-infrar...

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Veröffentlicht in:	Ophthalmology (Rochester, Minn.) Minn.), 2014-06, Vol.121 (6), p.1174-1184
Hauptverfasser:	Halford, Stephanie, PhD, Liew, Gerald, PhD, Mackay, Donna S., PhD, Sergouniotis, Panagiotis I., PhD, Holt, Richard, DPhil, Broadgate, Suzanne, PhD, Volpi, Emanuela V., PhD, Ocaka, Louise, PhD, Robson, Anthony G., PhD, Holder, Graham E., PhD, Moore, Anthony T., MD, Michaelides, Michel, MD, Webster, Andrew R., MD
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Comparative Genomic Hybridization Corneal Dystrophies, Hereditary - genetics Corneal Dystrophies, Hereditary - pathology Cytochrome P-450 Enzyme System - genetics Cytochrome P450 Family 4 DNA Mutational Analysis Electroretinography Exons - genetics Female Fluorescein Angiography Genetic Association Studies Humans In Situ Hybridization, Fluorescence Male Middle Aged Mutation, Missense Ophthalmology Polymerase Chain Reaction Polymorphism, Single Nucleotide Retinal Diseases - genetics Retinal Diseases - pathology Retinal Pigment Epithelium - pathology Tomography, Optical Coherence Visual Acuity - physiology Young Adult
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