[HTML][HTML] Bruch's membrane calcification in pseudoxanthoma elasticum: comparing histopathology and clinical imaging

S Risseeuw, MG Pilgrim, S Bertazzo, CN Brown… - Ophthalmology …, 2024 - Elsevier
Purpose To investigate the histology of Bruch's membrane (BM) calcification in
pseudoxanthoma elasticum (PXE) and correlate this to clinical retinal imaging. Design …

[HTML][HTML] Cyclical Etidronate Reduces the Progression of Arterial Calcifications in Patients with Pseudoxanthoma Elasticum: A 6-Year Prospective Observational Study

IM Harmsen, T van den Beukel, M Kok… - Journal of Clinical …, 2024 - mdpi.com
Background: Pseudoxanthoma elasticum (PXE), a rare genetic disorder presenting with
slowly progressing calcification of various tissues, including the arteries, is caused by …

Subclinical angioid streaks with pseudodrusen: a new phenotype of age-related macular degeneration

R Sacconi, B Tombolini, I Zucchiatti, A Servillo… - Ophthalmology and …, 2023 - Springer
Introduction To describe subclinical angioid streaks (AS) as a frequent, peculiar age-related
macular degeneration (AMD) phenotype, comparing features of eyes with subclinical AS …

Novel Human Induced Pluripotent Stem Cell‐Based Model for Retinal Pigment Epithelial Cells to Reveal Possible Disease Mechanisms for Macular Degeneration in …

T Viheriälä, H Hongisto, L Saari… - Journal of …, 2024 - Wiley Online Library
Pseudoxanthoma elasticum (PXE) is a rare metabolic disease with autosomal recessive
inheritance. The manifestation in PXE is represented by retinal complications …

A Plasma Pyrophosphate Cutoff Value for Diagnosing Pseudoxanthoma Elasticum

I Rubera, L Clotaire, A Laurain, A Destere… - International Journal of …, 2024 - mdpi.com
Pseudoxanthoma elasticum (PXE) is a rare inherited systemic disease responsible for a
juvenile peripheral arterial calcification disease. The clinical diagnosis of PXE is only based …

Optic disc drusen: new hypotheses on systemic calcification

Y Jiao, J Gale - Medical Research Archives, 2023 - esmed.org
Optic disc drusen (ODD) are acellular calcified deposits within the optic nerve head. They
arise early in life, usually remain asymptomatic with a benign prognosis, and they are most …

[HTML][HTML] Plasma lipids in Pseudoxanthoma Elasticum (PXE) patients: A comparative study with population-based reference values and Non-PXE controls

IM Harmsen, FLJ Visseren, M Kok, PA de Jong… - Atherosclerosis …, 2024 - Elsevier
Background and aims–Pseudoxanthoma elasticum (PXE) is a rare genetic disease caused
by pathogenic mutations in the ABCC6 gene, resulting in low values of inorganic …

[HTML][HTML] Arterial calcification volume is associated with a higher risk of cardiovascular events in pseudoxanthoma elasticum

IM Harmsen, FLJ Visseren, M Kok, PA de Jong… - Atherosclerosis, 2025 - Elsevier
Background and aims–Pseudoxanthoma elasticum (PXE) patients have more arterial
calcification due to lower levels of inorganic pyrophosphate, caused by mutations in the …

[PDF][PDF] Subclinical Angioid Streaks with Pseudodrusen: A New Phenotype of Age-Related Macular Degeneration

RSBTI Zucchiatti, ASMMG Falco, ALQFP Peter, C Issa… - 2023 - iris.unisr.it
Introduction: To describe subclinical angioid streaks (AS) as a frequent, peculiar age-related
macular degeneration (AMD) phenotype, comparing features of eyes with subclinical AS …

[PDF][PDF] Atherosclerosis Plus

IM Harmsen, FLJ Visseren, M Kok, PA de Jong… - researchinformation.umcutrecht.nl
Background and aims:–Pseudoxanthoma elasticum (PXE) is a rare genetic disease caused
by pathogenic mutations in the ABCC6 gene, resulting in low values of inorganic …