Optical coherence tomography findings in pseudoxanthoma elasticum

Area of Science:

• Ophthalmology
• Medical Imaging
• Genetics

Background:

• Pseudoxanthoma elasticum (PXE) is a rare genetic disorder affecting elastic tissue.
• Ocular manifestations of PXE can lead to significant vision impairment.
• Understanding the pathophysiology of PXE-related eye disease is crucial for patient management.

Purpose of the Study:

• To characterize the optical coherence tomography (OCT) findings in patients with ocular lesions secondary to pseudoxanthoma elasticum (PXE).
• To correlate OCT findings with the known histopathological changes in PXE.
• To evaluate the utility of OCT in diagnosing and understanding PXE ocular complications.

Main Methods:

• A cohort of 16 eyes from 8 patients diagnosed with PXE were included.
• A control group of 20 eyes from 10 age-matched healthy volunteers was used for comparison.
• All participants underwent comprehensive ophthalmologic examinations, including OCT. Fluorescein angiography was performed on PXE patients.

Main Results:

• OCT revealed increased reflectivity at the retinal pigment epithelium (RPE), Bruch membrane, and choriocapillaris complex in areas of peau de orange.
• Crystalline bodies presented as hyperreflective shells with isoreflective or hyporeflective cores on OCT.
• Angioid streaks showed thinning of the RPE-Bruch membrane-choriocapillaris complex.

Conclusions:

• Abnormalities in the RPE, choroid, and Bruch membrane are implicated in the ocular lesions of PXE.
• OCT imaging provides valuable insights into the pathophysiology of retinal lesions in PXE.
• Advanced OCT technologies, such as spectral domain OCT, offer enhanced detail and warrant further investigation.