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Application of Optical Coherence Tomography to a Mouse Model of Retinopathy
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Acute Retinopathy in Pseudoxanthoma Elasticum.
Martin Gliem1,2,3,4, Johannes Birtel1,2, Philipp L Müller1,2
1Department of Ophthalmology, University of Bonn, Bonn, Germany.
JAMA Ophthalmology
|August 9, 2019
Summary
Acute retinopathy, a potential autoimmune condition, can cause vision loss in pseudoxanthoma elasticum (PXE) patients. This condition may be reversible but can also lead to permanent vision impairment, impacting ocular disease progression.
Area of Science:
- Ophthalmology
- Genetics
- Immunology
Background:
- Pseudoxanthoma elasticum (PXE) is a genetic disorder affecting connective tissue, including the retina.
- Variable ocular manifestations and vision loss are observed in PXE patients.
- Acute retinopathy is increasingly recognized as a potential cause of visual impairment in PXE.
Purpose of the Study:
- To characterize the clinical presentation and imaging findings of acute retinopathy in patients with PXE.
- To determine the frequency and visual impact of acute retinopathy in a PXE cohort.
- To investigate potential autoimmune mechanisms underlying acute retinopathy in PXE.
Main Methods:
- A single-center case series of 9 genetically confirmed PXE patients with acute retinopathy.
- Multimodal retinal imaging including fundus photography, autofluorescence (AF), optical coherence tomography (OCT), fluorescein angiography (FA), and indocyanine green angiography (ICGA).
- Electroretinography and testing for antiretinal and anti-retinal pigment epithelium (RPE) antibodies were performed in select cases.
Main Results:
- Acute retinopathy occurred in 5% of the PXE cohort, presenting with symptoms from mild visual disturbances to severe vision loss.
- Imaging revealed characteristic retinal findings, including outer retinal whitish dots, hyperautofluorescence, and ellipsoid band loss on OCT.
- Vision loss was reversible in some patients, while others experienced prolonged impairment, potentially linked to angioid streaks and subretinal material.
- Antiretinal and/or anti-RPE antibodies were detected in 67% of tested patients.
Conclusions:
- Acute retinopathy is a significant manifestation in PXE, contributing to variable visual outcomes.
- The findings suggest a potential autoimmune component in PXE-related retinopathy.
- Understanding acute retinopathy is crucial for managing ocular complications and counseling PXE patients.
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