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Centrifugal fundus abnormalities in pseudoxanthoma elasticum.

Peter Charbel Issa¹, Robert P Finger, Christian Götting

¹Nuffield Laboratory of Ophthalmology, University of Oxford, United Kingdom.

|March 2, 2010

Summary

Pseudoxanthoma elasticum (PXE) affects the Bruch's membrane-retinal pigment epithelium (RPE) complex, showing centrifugal spread of pathology. Multimodal imaging reveals distinct zones of abnormality, with decreased indocyanine green fluorescence being a consistent sign.

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Area of Science:

Ophthalmology
Medical Imaging
Genetics

Background:

Pseudoxanthoma elasticum (PXE) is a genetic disorder affecting elastic tissue.
Retinal involvement in PXE primarily impacts the Bruch's membrane-retinal pigment epithelium (RPE) complex.
High-contrast imaging is crucial for visualizing deep retinal structures in PXE.

Purpose of the Study:

To investigate the Bruch's membrane-RPE complex in PXE using advanced imaging techniques.
To characterize the abnormalities and their distribution within the retina in PXE patients.
To understand the spread patterns of retinal pathology in PXE.

Main Methods:

Prospective cross-sectional study involving 16 PXE patients.
Utilized multimodal imaging: indocyanine green (ICG) and fluorescein angiography, confocal near-infrared (NIR) reflectance, and fundus autofluorescence.
Confocal scanning laser ophthalmoscopy and composite digital fundus photography were employed.

Main Results:

A central area of decreased ICG fluorescence was observed in all patients.
An extended peripheral area showed increased fundus reflectivity on NIR imaging.
Three distinct areas of abnormality were identified, separated by transition zones, with angioid streaks limited to specific regions.

Conclusions:

Retinal abnormalities in PXE exhibit a centrifugal spread pattern affecting the Bruch's membrane-RPE complex.
Decreased late-phase ICG fluorescence is a reliable indicator of retinal pathology in PXE.
Bruch's membrane calcification is a potential cause for increased NIR reflectivity in PXE.