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Added value of infrared, red-free and autofluorescence fundus imaging in Pseudoxanthoma elasticum

Julie De Zaeytijd (UGent) , Olivier Vanakker (UGent) , Paul Coucke (UGent) , Anne De Paepe (UGent) , Jean Delaey (UGent) and Bart Leroy (UGent)
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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.
Keywords
RETINAL-PIGMENT EPITHELIUM, SCANNING LASER OPHTHALMOSCOPE, AGE-RELATED ACCUMULATION, MACULAR DEGENERATION, RPE CELLS, IN-VIVO, LIPOFUSCIN, INHIBITION, MUTATIONS, COMPONENT

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Chicago
De Zaeytijd, Julie, Olivier Vanakker, Paul Coucke, Anne De Paepe, Jean Delaey, and Bart Leroy. 2010. “Added Value of Infrared, Red-free and Autofluorescence Fundus Imaging in Pseudoxanthoma Elasticum.” British Journal of Ophthalmology 94 (4): 479–486.
APA
De Zaeytijd, Julie, Vanakker, O., Coucke, P., De Paepe, A., Delaey, J., & Leroy, B. (2010). Added value of infrared, red-free and autofluorescence fundus imaging in Pseudoxanthoma elasticum. BRITISH JOURNAL OF OPHTHALMOLOGY, 94(4), 479–486.
Vancouver
1.
De Zaeytijd J, Vanakker O, Coucke P, De Paepe A, Delaey J, Leroy B. Added value of infrared, red-free and autofluorescence fundus imaging in Pseudoxanthoma elasticum. BRITISH JOURNAL OF OPHTHALMOLOGY. 2010;94(4):479–86.
MLA
De Zaeytijd, Julie, Olivier Vanakker, Paul Coucke, et al. “Added Value of Infrared, Red-free and Autofluorescence Fundus Imaging in Pseudoxanthoma Elasticum.” BRITISH JOURNAL OF OPHTHALMOLOGY 94.4 (2010): 479–486. Print.
@article{953291,
  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.},
  author       = {De Zaeytijd, Julie and Vanakker, Olivier and Coucke, Paul and De Paepe, Anne and Delaey, Jean and Leroy, Bart},
  issn         = {0007-1161},
  journal      = {BRITISH JOURNAL OF OPHTHALMOLOGY},
  language     = {eng},
  number       = {4},
  pages        = {479--486},
  title        = {Added value of infrared, red-free and autofluorescence fundus imaging in Pseudoxanthoma elasticum},
  url          = {http://dx.doi.org/10.1136/bjo.2009.162644},
  volume       = {94},
  year         = {2010},
}

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