Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Variant.

Abstract excerpt

PURPOSE: 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...

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