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dc.contributor.authorTysoe, Carolyn
dc.contributor.authorCaswell, Richard
dc.date.accessioned2020-10-20T13:48:35Z
dc.date.available2020-10-20T13:48:35Z
dc.date.issued2020-10
dc.identifier.citationCharbel Issa P et al. Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Variant. Am J Ophthalmol. 2020 Oct;218:255-260.en_US
dc.identifier.pmid32442430
dc.identifier.doi10.1016/j.ajo.2020.05.009
dc.identifier.urihttps://rde.dspace-express.com/handle/11287/621490
dc.description.abstractPurpose: To describe patients with late-onset pseudoxanthoma elasticum (PXE) associated with a likely hypomorphic ABCC6 variant. Design: Retrospective observational case series. Methods: Clinical evaluation, multimodal retinal imaging, genetic testing, and molecular modeling. Results: Three patients, in whom vision symptoms first arose at 80 years of age or later, showed age-related macular degeneration (AMD)-like fundus changes. However, features characteristic of PXE, including discrete angioid streaks and reduced fluorescence on late-phase indocyanine green angiography, prompted genetic testing which revealed the c.1171A>G variant in combination with a large deletion in the ABCC6 gene in each case. None of the patients had obvious skin changes or cardiovascular disease atypical for their age. Comparative molecular modeling supported the hypothesis that the c.1171A>GABCC6 variant acted as a hypomorphic variant. Conclusions: Late-onset PXE extends the spectrum of ectopic calcification disorders caused by mutations in ABCC6 and may clinically be limited to the eye, mimicking AMD. Patients may be identified based on specific ocular changes, whereas skin and cardiovascular changes may remain ambiguous. The study provides evidence for a role for hypomorphic ABCC6 variants in the pathogenesis of PXE.en_US
dc.language.isoenen_US
dc.publisherElsevier Scienceen_US
dc.relation.urlhttps://linkinghub.elsevier.com/retrieve/pii/S0002-9394(20)30239-7en_US
dc.rightsCopyright © 2020 Elsevier Inc. All rights reserved.en_US
dc.subjectPseudoxanthomaen_US
dc.subjectABCC6 Varianten_US
dc.subjectWessex Classification Subject Headings::Biochemistryen_US
dc.titleLate-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Varianten_US
dc.typeJournal Articleen_US
dc.identifier.journalAmerican Journal of Ophthalmologyen_US
dc.description.noteThis article is available to RD&E staff via NHS OpenAthens (subject to full text embargos which may apply). Click on the Publisher URL, and log in with NHS OpenAthens if prompted.en_US
dc.type.versionPublisheden_US
dc.description.admin-notepublished version, accepted version (12 month embargo), submitted versionen_US


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