Purpose
To describe the phenotype, prevalence and topographic distribution of reticular pseudodrusen (RPD) in patients with Pseudoxanthoma elasticum (PXE) and their association with Bruch’s membrane (BM) pathology.
Methods
Diagnosis of PXE was based on ophthalmologic examination, skin biopsy and/or genetic testing. Presence and phenotypic characteristics of RPD were investigated using a confocal scanning laser ophthalmoscope (Spectralis HRA-OCT, Heidelberg Engineering, Germany). The multimodal imaging approach included near-infrared (NIR) reflectance, fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT) and late-phase indocyanin green angiography (ICG-A). The distribution of RPD was evaluated based on 9-field NIR reflectance images using a modified Early Treatment Diabetic Retinopathy Study grid.
Results
A total of 57 eyes of 34 patients were examined. RPD were detected in 57.6% of PXE patients. Mean age of patients with RPD was 49.8 ± 6.8 years (range: 41-63 years). RPD appeared as network of round to oval lesions which were hyporeflective on IR and hypoautofluorescent on FAF images. SD-OCT showed characteristic subretinal deposits anterior to the RPE layer. RPD were most frequently located within the superior quadrant (95.6%) and least frequent within the central macula (4.3%). Longitudinal analyses of NIR reflectance images indicated that RPD may either first occur within the papillomacular area or along the temporal vascular arcades. RPD were always located central to areas with peau d’orange and within an area of hypofluorescence on ICG-A-late phase images.
Conclusions
RPD have a high prevalence in eyes of PXE patients. Although RPD in PXE patients occur at younger age, their distribution and phenotype appear to be similar to RPD associated with age-related macular degeneration (AMD) using imaging modalities relevant for RPD detection. The distribution of RPD followed the peripheral spread of BM pathology in PXE indicating a possible pathogenetic role for the development of RPD.
Keywords: 688 retina •
550 imaging/image analysis: clinical •
438 Bruch's membrane