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Quantitative Fundus Autofluorescence for the Evaluation of Retinal Diseases
Published on: March 11, 2016
Fundus autofluorescence in patients with pseudoxanthoma elasticum
Miki Sawa1, Michael D Ober, K Bailey Freund
1Vitreous-Retina-Macular Consultants of New York and the LuEsther T. Mertz Retinal Research Center, New York, New York 10022, USA.
Ophthalmology
|May 3, 2006
Summary
Autofluorescence photography reveals extensive retinal pigment epithelium (RPE) disturbances in pseudoxanthoma elasticum, indicating a significant role in vision loss. This imaging technique offers a broader view of RPE damage than previously possible.
Area of Science:
- Ophthalmology
- Medical Imaging
- Genetics
Background:
- Pseudoxanthoma elasticum (PXE) is a rare genetic disorder affecting elastic tissue, often leading to vision impairment.
- PXE is caused by mutations in the ABCC6 gene, impacting a putative transport protein.
- Ocular manifestations of PXE can significantly impact visual acuity.
Purpose of the Study:
- To evaluate autofluorescence findings in patients diagnosed with pseudoxanthoma elasticum.
- To characterize the patterns of retinal pigment epithelium (RPE) abnormalities using autofluorescence photography.
- To compare the extent of RPE disturbance detected by autofluorescence with other ocular imaging methods.
Main Methods:
- An observational case series design was employed.
- Evaluated color, red-free monochromatic, autofluorescence photography, and fluorescein angiography in PXE patients.
- Cataloged abnormalities observed through autofluorescence photography.
Main Results:
- All 8 patients exhibited PXE-typical abnormalities, including angioid streaks (14/16 eyes), peau d'orange (4/16 eyes), and choroidal neovascularization (11/16 eyes).
- Autofluorescence revealed angioid streaks as hypoautofluorescent fissures and identified various RPE atrophy patterns: RPE rips (6/16 eyes), multilobular atrophy (9/16 eyes), and broad atrophy (5/16 eyes).
- Autofluorescence demonstrated more widespread RPE disturbance than other imaging modalities.
Conclusions:
- Autofluorescence photography highlights extensive RPE disturbances, particularly atrophy, in PXE patients.
- The findings suggest that RPE disturbance plays a crucial role in the pathogenesis of visual loss in PXE.
- Autofluorescence imaging provides a more comprehensive assessment of RPE damage in PXE than conventional methods.
