Fundus autofluorescence in Pseudoxanthoma elasticum.

Area of Science:

• Ophthalmology
• Genetics
• Medical Imaging

Background:

• Pseudoxanthoma elasticum (PXE) is an inherited disorder affecting elastic tissue.
• Ocular manifestations include angioid streaks, peau d'orange, and choroidal neovascularization (CNV).
• Retinal pigment epithelium (RPE) atrophy and secondary CNVs contribute to vision loss in PXE.

Purpose of the Study:

• To investigate the RPE-photoreceptor complex in PXE using fundus autofluorescence (FAF) imaging.
• To compare FAF findings with conventional fundus imaging techniques.

Main Methods:

• 46 patients (92 eyes) with PXE underwent digital fundus photography, fluorescein angiography (FA), and FAF imaging.
• Diagnosis was confirmed by clinical examination, ABCC6 gene mutation analysis, and skin biopsy.

Main Results:

• FAF imaging revealed diverse and widespread RPE-photoreceptor complex abnormalities in all PXE eyes.
• Angioid streaks were prevalent; peau d'orange was subtle, while comet tail lesions were evident on FAF.
• RPE atrophy was extensive and heterogeneous, often near angioid streaks or CNVs; pattern dystrophy-like changes indicated prior CNV events.

Conclusions:

• FAF imaging offers a more comprehensive view of RPE-photoreceptor complex abnormalities in PXE than conventional methods.
• Pattern dystrophy-like changes may precede neovascularization in some PXE patients.
• Pathologic RPE alterations play a significant role in the visual impairment associated with PXE.