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Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum
  1. Julie De Zaeytijd1,
  2. Olivier M Vanakker2,3,
  3. Paul J Coucke2,
  4. Anne De Paepe2,
  5. Jean-Jacques De Laey1,
  6. Bart P Leroy1,2
  1. 1Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium
  2. 2Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium
  3. 3Fund of Scientific Research, Flanders, Belgium
  1. Correspondence to Dr Bart P Leroy, Department of Ophthalmology & Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185, Ghent 9000, Belgium; bart.leroy{at}ugent.be

Abstract

Purpose Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by mutations in the ABCC6 gene and primarily affects the oculocutaneous and cardiovascular systems. However, the phenotype, including the ophthalmological manifestations, varies in severity. The present study aims to evaluate the added value of novel funduscopic imaging techniques, such as near-infrared reflectance, red-free and autofluorescence imaging in PXE.

Methods In 22 molecularly proven PXE patients and 25 obligate carriers, PXE retinopathy was evaluated using funduscopy, white light, red-free, infrared and autofluorescence imaging.

Results At least one characteristic of PXE retinopathy was evident on funduscopy of all eyes. Angioid streaks could be subdivided in those with (brick red) or without (feathered) adjacent RPE alterations. Infrared imaging showed the brick-red-coloured streaks as well-demarcated dark fissures, even when these passed unnoticed on funduscopy. Feathered types were detected as triangular areas of hypoautofluorescence. The peau d'orange was much more visible and much more widespread on infrared imaging, with extension from the posterior pole towards the whole midperiphery. Comets and comet tails were best seen with red-free imaging.

Conclusions Infrared, red-free and autofluorescence imaging are more sensitive than white light funduscopy and imaging in visualising early retinal signs of PXE. In addition, this specialised imaging allows a better appreciation of the extent of lesions. Hence, such imaging increases the chances of making a correct diagnosis early, and aids in the accurate evaluation of evolution of disease in the ophthalmic follow-up of PXE patients.

  • Pseudoxanthoma elasticum
  • ocular signs
  • infrared
  • red-free and autofluorescence imaging
  • retina
  • macula
  • genetics
  • imaging
  • diagnostic tests/investigation

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Footnotes

  • Funding Research Foundation-Flanders (FWO Vlaanderen), Egmontstraat 5—1000 Brussels, Belgium.

  • Competing interest None.

  • Ethics approval Ethics approval was provided by the Ethical Committee, Ghent University Hospital.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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