PURPOSE: To investigate the Bruch's membrane-retinal pigment epithelium (RPE) complex in pseudoxanthoma elasticum (PXE) by imaging techniques capable of visualizing deep retinal structures with high contrast. DESIGN: Prospective cross-sectional study. PARTICIPANTS: Patients with PXE, confirmed by mutation analysis, skin histopathologic examination, or both. METHODS: Sixteen patients were investigated by indocyanine green (ICG) and fluorescein angiography, confocal near-infrared (NIR) reflectance, and fundus autofluorescence imaging using a confocal scanning laser ophthalmoscope (Spectralis HRA-OCT; Heidelberg Engineering, Heidelberg, Germany). Composite digital fundus photography also was performed. MAIN OUTCOME MEASURES: Characterization and topographic distribution of abnormalities detected by retinal imaging. RESULTS: On late-phase ICG angiography, a central area of decreased fluorescence centered on the posterior pole was a characteristic finding in all patients. A second area characterized by increased fundus reflectivity on NIR reflectance imaging extended further into the periphery. A third and most eccentric area showed neither decreased ICG fluorescence nor increased fundus reflectivity. These 3 areas were separated by 2 transition zones, the second being the equivalent of peau d'orange. Angioid streaks did not extend into the third area. CONCLUSIONS: The abnormalities detected by this multimodal imaging approach suggest a centrifugal spread of the retinal pathologic features of the Bruch's membrane-RPE complex in PXE. Decreased fluorescence on late-phase ICG angiography is a consistent sign of retinal pathologic features in PXE. Bruch's membrane calcification may be the underlying cause for the increased reflectivity observed on NIR reflectance imaging. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references. Copyright 2010 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.
PURPOSE: To investigate the Bruch's membrane-retinal pigment epithelium (RPE) complex in pseudoxanthoma elasticum (PXE) by imaging techniques capable of visualizing deep retinal structures with high contrast. DESIGN: Prospective cross-sectional study. PARTICIPANTS: Patients with PXE, confirmed by mutation analysis, skin histopathologic examination, or both. METHODS: Sixteen patients were investigated by indocyanine green (ICG) and fluorescein angiography, confocal near-infrared (NIR) reflectance, and fundus autofluorescence imaging using a confocal scanning laser ophthalmoscope (Spectralis HRA-OCT; Heidelberg Engineering, Heidelberg, Germany). Composite digital fundus photography also was performed. MAIN OUTCOME MEASURES: Characterization and topographic distribution of abnormalities detected by retinal imaging. RESULTS: On late-phase ICG angiography, a central area of decreased fluorescence centered on the posterior pole was a characteristic finding in all patients. A second area characterized by increased fundus reflectivity on NIR reflectance imaging extended further into the periphery. A third and most eccentric area showed neither decreased ICG fluorescence nor increased fundus reflectivity. These 3 areas were separated by 2 transition zones, the second being the equivalent of peau d'orange. Angioid streaks did not extend into the third area. CONCLUSIONS: The abnormalities detected by this multimodal imaging approach suggest a centrifugal spread of the retinal pathologic features of the Bruch's membrane-RPE complex in PXE. Decreased fluorescence on late-phase ICG angiography is a consistent sign of retinal pathologic features in PXE. Bruch's membrane calcification may be the underlying cause for the increased reflectivity observed on NIR reflectance imaging. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references. Copyright 2010 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.
Authors: Kristina Hess; Martin Gliem; Peter Charbel Issa; Johannes Birtel; Philipp L Müller; Leon von der Emde; Philipp Herrmann; Frank G Holz; Maximilian Pfau Journal: JAMA Ophthalmol Date: 2020-12-01 Impact factor: 7.389
Authors: J M Ebran; L Martin; N Navasiolava; M Ferre; D Milea; S Leruez Journal: Graefes Arch Clin Exp Ophthalmol Date: 2018-02-26 Impact factor: 3.117
Authors: Martin Gliem; Johannes Birtel; Philipp Herrmann; Rolf Fimmers; Moritz Berger; Christoph Coch; Almut Wingen; Frank G Holz; Peter Charbel Issa Journal: Graefes Arch Clin Exp Ophthalmol Date: 2019-12-20 Impact factor: 3.117
Authors: Robert P Finger; Eva Fenwick; Manjula Marella; Peter Charbel Issa; Hendrik P N Scholl; Frank G Holz; Ecosse L Lamoureux Journal: Health Qual Life Outcomes Date: 2011-12-12 Impact factor: 3.186
Authors: Martin Gliem; Julie De Zaeytijd; Robert P Finger; Frank G Holz; Bart P Leroy; Peter Charbel Issa Journal: Front Genet Date: 2013-04-04 Impact factor: 4.599