Abstract
The authors describe an uncommon association between pseudoxanthoma elasticum with typical fundus lesions and positive testing for mutation in the ABCC6 gene and the concomitant presence of a large subfoveal vitelliform lesion.
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MeSH terms
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Angioid Streaks / complications*
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Angioid Streaks / diagnosis
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Angioid Streaks / genetics
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Female
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Fluorescein Angiography
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Humans
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Middle Aged
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Multidrug Resistance-Associated Proteins / genetics
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Mutation / genetics
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Pseudoxanthoma Elasticum / diagnosis
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Pseudoxanthoma Elasticum / etiology*
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Pseudoxanthoma Elasticum / genetics
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Retinal Pigment Epithelium / pathology*
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Tomography, Optical Coherence
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Visual Acuity
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Vitelliform Macular Dystrophy / complications*
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Vitelliform Macular Dystrophy / diagnosis
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Vitelliform Macular Dystrophy / genetics
Substances
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ABCC6 protein, human
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Multidrug Resistance-Associated Proteins