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Journal article

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

Abstract:

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-infrared (NIR) imaging, fundus autofluorescence (FAF) imaging, spectral domain optical coherence tomography (SD-OCT), and electroretinogram (ERG) assessment. The gene CYP4V2 was sequenced. MAIN OUTCO...

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Publication status:
Published

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
Role:
Author
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Journal:
Ophthalmology
Volume:
121
Issue:
6
Pages:
1174-1184
Publication date:
2014-06-05
DOI:
EISSN:
1549-4713
ISSN:
0161-6420
URN:
uuid:d84a80e3-9b88-4af1-994f-2fab07506af7
Source identifiers:
447887
Local pid:
pubs:447887

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