Centrifugal fundus abnormalities in pseudoxanthoma elasticum.
OBJECTIVE
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.


METHODS
Prospective cross-sectional study.


METHODS
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.


METHODS
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.


BACKGROUND
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Charbel Issa
Peter
P
Nuffield Laboratory of Ophthalmology, University of Oxford, United Kingdom.
Finger
Robert P
RP
Götting
Christian
C
Hendig
Doris
D
Holz
Frank G
FG
Scholl
Hendrik P N
HP
D000328:Adult; D000793:Angioid Streaks / Q000175:diagnosis; D016570:Bruch Membrane / Q000473:pathology*; D004396:Coloring Agents; D003430:Cross-Sectional Studies; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D007208:Indocyanine Green; D008297:Male; D018613:Microscopy, Confocal; D008875:Middle Aged; D011446:Prospective Studies; D011561:Pseudoxanthoma Elasticum / Q000175:diagnosis*; D012164:Retinal Diseases / Q000175:diagnosis*; D055213:Retinal Pigment Epithelium / Q000473:pathology*
D004396:Coloring Agents; D007208:Indocyanine Green