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Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene.
- Source :
-
Eye (London, England) [Eye (Lond)] 2012 May; Vol. 26 (5), pp. 753-5. Date of Electronic Publication: 2012 Jan 20. - Publication Year :
- 2012
- Subjects :
- Angioid Streaks diagnosis
Angioid Streaks physiopathology
Consanguinity
DNA Mutational Analysis
Electroretinography
Exons genetics
Fluorescein Angiography
Humans
Male
Pseudoxanthoma Elasticum diagnosis
Pseudoxanthoma Elasticum physiopathology
Retina physiology
Retinal Diseases diagnosis
Retinal Diseases physiopathology
Visual Acuity
Young Adult
Angioid Streaks genetics
Gene Duplication
Multidrug Resistance-Associated Proteins genetics
Mutation
Pseudoxanthoma Elasticum genetics
Retinal Diseases genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1476-5454
- Volume :
- 26
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Eye (London, England)
- Publication Type :
- Report
- Accession number :
- 22261738
- Full Text :
- https://doi.org/10.1038/eye.2011.344