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Reticular Pseudodrusen in Sorsby Fundus Dystrophy
Martin Gliem1, Philipp L Müller1, Elisabeth Mangold2
1Department of Ophthalmology, University Hospital of Bonn, Bonn, Germany.
Ophthalmology
|June 17, 2015
Summary
Reticular pseudodrusen (RPD) are common in Sorsby fundus dystrophy (SFD) patients, particularly in their sixth decade. This finding suggests a potential role for Bruch
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- Sorsby fundus dystrophy (SFD) is a rare inherited condition.
- Reticular pseudodrusen (RPD) are typically associated with age-related macular degeneration.
Purpose of the Study:
- To investigate the association between reticular pseudodrusen (RPD) and Sorsby fundus dystrophy (SFD).
Main Methods:
- A prospective, monocenter, cross-sectional case series.
- Sixteen patients from 4 unrelated families with SFD due to TIMP3 mutations were studied.
- Multimodal imaging, including NIR reflectance, fundus autofluorescence, and SD OCT, was performed.
Main Results:
- RPD were frequently identified in SFD patients, especially in their sixth decade (71%).
- RPD were most abundant in the superior quadrant, sparing the fovea.
- RPD appeared as subretinal deposits on SD OCT, hyporeflective on NIR, and hypofluorescent on autofluorescence.
Conclusions:
- RPD are a frequent finding in SFD, suggesting a shared pathogenic mechanism involving Bruch's membrane.
- The distribution and phenotype of RPD in SFD are similar to those in age-related macular degeneration.
- RPD in SFD patients, though younger, indicate a role for the Bruch's membrane-retinal pigment epithelium interface in RPD pathogenesis.
