- 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...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1016/j.ophtha.2013.11.042
-
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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
- Language:
- English
- Keywords:
- Copyright date:
- 2014
Journal article
Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.
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