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Peter Charbel Issa, Martin Gliem, Philipp L. Mueller, Johannes Birtel, Doris Hendig, Frank G Holz; Frequency, phenotype and progression of geographic atrophy associated with pseudoxanthoma elasticum, a model disease for a diseased Bruch’s membran. Invest. Ophthalmol. Vis. Sci. 2016;57(12):2151.
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© ARVO (1962-2015); The Authors (2016-present)
To investigate the characteristics of geographic atrophy (GA) associated with Pseudoxanthoma elasticum (PXE).
For this retrospective analysis, patients with PXE were identified from a database of a German national referral center for PXE. Diagnosis of PXE was confirmed in each patient by genetic testing and/or skin biopsy. The prevalence and the phenotype of GA was investigated using multimodal imaging including fundus autofluorescence (AF), infrared reflectance (IR) and spectral domain optical coherence tomography (SD-OCT) imaging. Areas of GA were quantified based on AF images. For estimation of GA progression longitudinal AF recordings were analyzed. Exclusion criteria included insufficient image quality and additional retinal pathologies unrelated to PXE.
137 patients with a mean age of 52 years (range: 14-89 years) were included in the study. Out of the 273 eyes eligible for further analysis, 90 (32%) had GA and 20 (7%) of those showed no signs of concurrent choroidal neovascularization (CNV). The youngest patient with GA was 36 years old. The frequency of GA with and without signs for an additional CNV increased with age, reaching 75% in those older than 70 years of age. Phenotypically most patients had multilobular GA with enhanced fundus AF surrounding the border zone of the atrophic patches. Early cases were characterized by pattern dystrophy like changes (100%), reticular pseudodrusen (82%) and subfoveal choroidal thinning (155µm ± 75µm SD). The most severely affected patients revealed multifocal and widespread chorioretinal atrophy expanding beyond the vascular arcades and nasal to the optic disc. GA progression was measured in 22 eyes of 16 patients (mean age 54.5 ± 2.6, 95% CI: 37-62 years). Yearly expansion rate of the GA area was 3.1 ± 0.9 µm/year (range: 1.0-5.4) in eyes without signs for an associated CNV (n=8) and 1.72 ± 0.7 µm/year (range: 0.6-5.1) in eyes with currently or previously active CNV (n=14).
GA is a common finding in PXE patients with early onset and fast progression leading to vision loss independent from the presence of secondary CNV. These findings underline the importance of BM for retinal integrity and suggest a possible pathogenetic contribution of Bruch’s membrane for development of GA in age-related macular degeneration.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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