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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
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
Journal:
Ophthalmology
Volume:
121
Issue:
6
Pages:
1174-1184
Publication date:
2014-06-01
DOI:
EISSN:
1549-4713
ISSN:
0161-6420
Source identifiers:
447887

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