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Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum
- Source :
- British Journal of Ophthalmology. 94:479-486
- Publication Year :
- 2009
- Publisher :
- BMJ, 2009.
-
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 fundoscopic imaging techniques, such as infrared, 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 fundoscopy 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 hypo-autofluorescence. The peau d’orange was much better 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 visualizing early retinal signs of PXE. In addition, this specialised imaging allows 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.
- Subjects :
- Adult
Male
Pathology
medicine.medical_specialty
Adolescent
Fundus Oculi
Infrared Rays
Posterior pole
ABCC6
Fundus (eye)
Young Adult
Cellular and Molecular Neuroscience
Photography
medicine
Humans
Fluorescein Angiography
Pseudoxanthoma Elasticum
Aged
biology
business.industry
Middle Aged
Macular degeneration
Pseudoxanthoma elasticum
medicine.disease
Sensory Systems
Ophthalmology
Autofluorescence
Angioid streaks
biology.protein
Female
business
Retinopathy
Subjects
Details
- ISSN :
- 00071161
- Volume :
- 94
- Database :
- OpenAIRE
- Journal :
- British Journal of Ophthalmology
- Accession number :
- edsair.doi.dedup.....b5873e69fa1f1899ed2c4829778b9058