Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Loss of ABCC6 in Human Mesenchymal Stem Cells Leads to Elevated Reactive Oxygen Species Formation and a Senescence-like Phenotype.

Antioxidants (Basel, Switzerland)·2026
Same author

Investigation on ABCC6-Deficient Human Hepatocytes Generated by CRISPR-Cas9 Genome Editing.

Cells·2025
Same author

Influence of pseudoxanthoma elasticum on the lipid profile and prognostic implications.

VASA. Zeitschrift fur Gefasskrankheiten·2024
Same author

Optic Disc Drusen in Pseudoxanthoma Elasticum Are Associated with the Extent of Bruch's Membrane Calcification.

Journal of clinical medicine·2024
Same author

The Activation of JAK/STAT3 Signaling and the Complement System Modulate Inflammation in the Primary Human Dermal Fibroblasts of PXE Patients.

Biomedicines·2023
Same author

Understanding of arthrofibrosis: New explorative insights into extracellular matrix remodeling of synovial fibroblasts.

PloS one·2023

Related Experiment Video

Updated: Feb 17, 2026

Quantitative Fundus Autofluorescence for the Evaluation of Retinal Diseases
07:22

Quantitative Fundus Autofluorescence for the Evaluation of Retinal Diseases

Published on: March 11, 2016

11.9K

Quantitative Fundus Autofluorescence in Pseudoxanthoma Elasticum.

Martin Gliem1,2, Philipp L Müller1,2, Johannes Birtel1,2

  • 1Department of Ophthalmology, University of Bonn, Bonn, Germany.

Investigative Ophthalmology & Visual Science
|December 8, 2017
PubMed
Summary

Patients with pseudoxanthoma elasticum (PXE) show reduced autofluorescence in the retina, indicating Bruch's membrane pathology. This finding may alter lipofuscin accumulation in retinal cells.

More Related Videos

Author Spotlight: Understanding Age-Related Macular Degeneration Pathophysiology with QAF Workflow
08:54

Author Spotlight: Understanding Age-Related Macular Degeneration Pathophysiology with QAF Workflow

Published on: May 26, 2023

2.2K
Author Spotlight: Anterior HR-OCT as a Non-Invasive Tool for Characterizing Ocular Surface Squamous Neoplasia
06:15

Author Spotlight: Anterior HR-OCT as a Non-Invasive Tool for Characterizing Ocular Surface Squamous Neoplasia

Published on: August 9, 2024

1.9K

Related Experiment Videos

Last Updated: Feb 17, 2026

Quantitative Fundus Autofluorescence for the Evaluation of Retinal Diseases
07:22

Quantitative Fundus Autofluorescence for the Evaluation of Retinal Diseases

Published on: March 11, 2016

11.9K
Author Spotlight: Understanding Age-Related Macular Degeneration Pathophysiology with QAF Workflow
08:54

Author Spotlight: Understanding Age-Related Macular Degeneration Pathophysiology with QAF Workflow

Published on: May 26, 2023

2.2K
Author Spotlight: Anterior HR-OCT as a Non-Invasive Tool for Characterizing Ocular Surface Squamous Neoplasia
06:15

Author Spotlight: Anterior HR-OCT as a Non-Invasive Tool for Characterizing Ocular Surface Squamous Neoplasia

Published on: August 9, 2024

1.9K

Area of Science:

  • Ophthalmology
  • Retinal Diseases
  • Bruch's Membrane Pathology

Background:

  • Pseudoxanthoma elasticum (PXE) serves as a model disease for studying Bruch's membrane pathology.
  • Lipofuscin accumulation in retinal pigment epithelial cells is a key indicator of retinal health.

Purpose of the Study:

  • To quantify lipofuscin-associated fundus autofluorescence (qAF) in patients with PXE.
  • To compare qAF values in PXE patients with those of healthy controls.

Main Methods:

  • A prospective, monocenter, cross-sectional case-control study involving 49 PXE patients and 108 healthy controls.
  • Quantitative fundus autofluorescence (qAF) imaging using a modified scanning laser ophthalmoscope with internal fluorescent reference normalization.
  • Measurement of mean qAF values in a ring centered on the fovea (qAF8).

Main Results:

  • PXE patients exhibited significantly lower qAF8 values than controls (-23%, P < 0.001).
  • Reductions were more pronounced in patients over 40 and negatively correlated with Bruch's membrane calcification (r = -0.49).
  • Topographic analysis showed greater qAF reduction nasally compared to temporally; associated phenotypes included pattern-dystrophy-like changes and reticular pseudodrusen.

Conclusions:

  • Reduced qAF8 values are characteristic of PXE, signifying Bruch's membrane disease.
  • This suggests modifications in lipofuscin accumulation, distribution, or composition within retinal pigment epithelial cells in PXE.
  • qAF imaging can aid in understanding the pathophysiology of PXE and related Bruch's membrane disorders.