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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 (2010) BRITISH JOURNAL OF OPHTHALMOLOGY. 94(4). p.479-486
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.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
RETINAL-PIGMENT EPITHELIUM, SCANNING LASER OPHTHALMOSCOPE, AGE-RELATED ACCUMULATION, MACULAR DEGENERATION, RPE CELLS, IN-VIVO, LIPOFUSCIN, INHIBITION, MUTATIONS, COMPONENT
journal title
BRITISH JOURNAL OF OPHTHALMOLOGY
Br. J. Ophthalmol.
volume
94
issue
4
pages
479 - 486
Web of Science type
Article
Web of Science id
000276841900019
JCR category
OPHTHALMOLOGY
JCR impact factor
2.934 (2010)
JCR rank
9/55 (2010)
JCR quartile
1 (2010)
ISSN
0007-1161
DOI
10.1136/bjo.2009.162644
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
953291
handle
http://hdl.handle.net/1854/LU-953291
date created
2010-05-26 15:46:56
date last changed
2014-01-14 10:11:22
@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},
  keyword      = {RETINAL-PIGMENT EPITHELIUM,SCANNING LASER OPHTHALMOSCOPE,AGE-RELATED ACCUMULATION,MACULAR DEGENERATION,RPE CELLS,IN-VIVO,LIPOFUSCIN,INHIBITION,MUTATIONS,COMPONENT},
  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},
}

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, J., 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.