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Updated: Apr 16, 2026
Enrichment of Bruch's Membrane from Human Donor Eyes
Published on: November 15, 2015
Reticular pseudodrusen associated with a diseased bruch membrane in pseudoxanthoma elasticum
Martin Gliem1, Doris Hendig2, Robert P Finger3
1Department of Ophthalmology, University of Bonn, Bonn, Germany.
Importance:
Reticular pseudodrusen (RPD) are frequently associated with age-related macular degeneration and considered to be an independent risk factor for disease progression, but the pathophysiologic mechanisms are only incompletely understood. Therefore, it may be helpful to identify the associations of RPD with other diseases that have defined pathophysiologic mechanisms.
Objective:
To describe the phenotype, prevalence, and topographic distribution of RPD in patients with pseudoxanthoma elasticum (PXE) and their association with a diseased Bruch membrane.
Design, Setting, And Participants:
In this single-center, prospective, cross-sectional case series, 57 consecutive patients with PXE from a university referral center whose diagnosis has been confirmed by genetic testing and/or skin biopsy were studied from March 1, 2013, through February 28, 2014.
Main Outcomes And Measures:
Phenotypic characteristics of RPD were evaluated with multiple imaging techniques. The RPD were defined as irregular networks of round to oval lesions that appear hyporeflective on near-infrared reflectance, hypoautofluorescent on fundus autofluorescence, and as subretinal deposits on spectral-domain optical coherence tomographic images. The presence of RPD was judged based on characteristic findings in at least 2 of the 3 imaging modalities.
Results:
A total of 57 patients were examined, and 15 patients were excluded mainly because of large central atrophy or fibrosis. In the remaining 42 patients with PXE, RPD were detected in 22 patients (52%; 95% CI, 38%-67%). Prevalence of RPD was highest in the fifth decade at 67% (10/15; 95% CI, 42%-85%). The RPD were most frequently located within the superior quadrant and least frequently located within the central macula. The RPD were always located central to areas with peau d'orange and within an area of hypofluorescence on late-phase indocyanine green angiographic images.
Conclusions And Relevance:
These data suggest that RPD have a high prevalence in eyes of patients with PXE. Although RPD in patients with PXE occur at a younger age, their distribution and phenotype appear to be similar to RPD associated with age-related macular degeneration. The association with diseased Bruch membrane in PXE suggests a pathogenetic role of Bruch membrane alterations for the development of RPD.
Insights
Reticular pseudodrusen (RPD) were found in 52% of patients with pseudoxanthoma elasticum (PXE), often at a younger age. This suggests a link between PXE, Bruch membrane disease, and RPD development.
Area of Science:
- Ophthalmology
- Genetics
- Pathophysiology
Background:
- Reticular pseudodrusen (RPD) are linked to age-related macular degeneration (AMD) progression.
- The exact pathophysiologic mechanisms of RPD remain unclear.
- Understanding RPD associations with other diseases can elucidate their development.
Purpose of the Study:
- To investigate the phenotype, prevalence, and location of RPD in patients with pseudoxanthoma elasticum (PXE).
- To explore the association between RPD and Bruch membrane abnormalities in PXE patients.
Main Methods:
- A prospective, cross-sectional study of 57 consecutive PXE patients confirmed by genetic testing or skin biopsy.
- RPD were identified using near-infrared reflectance, fundus autofluorescence, and spectral-domain optical coherence tomography.
- Diagnosis of RPD required characteristic findings in at least two imaging modalities.
Main Results:
- RPD were detected in 22 of 42 eligible PXE patients (52%).
- Prevalence was highest in the fifth decade (67%).
- RPD were predominantly in the superior quadrant, central to peau d'orange, and hypofluorescent on indocyanine green angiography.
Conclusions:
- RPD are highly prevalent in PXE patients, appearing at a younger age.
- RPD phenotype and distribution in PXE resemble those in AMD.
- Bruch membrane alterations in PXE may play a role in RPD pathogenesis.
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