Acute Retinopathy in Pseudoxanthoma Elasticum

Martin Gliem, Johannes Birtel, Philipp L. Müller, Doris Hendig, Isabel Faust, Philipp Herrmann, Frank G. Holz, Grazyna Adamus, Peter Charbel Issa

Research output: Contribution to journalArticle

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Abstract

Importance: Acute retinopathy may partly explain variable disease manifestation and vision loss in patients with pseudoxanthoma elasticum (PXE). The diagnosis of this likely autoimmune process may inform patient counseling and treatment approaches. Objective: To characterize acute retinopathy in patients with PXE as a disease manifestation that may be associated with profound visual impairment. Design, Setting, and Participants: This single-center case series was conducted from May 2013 to October 2018. It used the patient database of the Department of Ophthalmology at the University of Bonn, a referral center for PXE in Germany. Patients at this center with genetically confirmed PXE and who met the inclusion criteria were included (n = 9). Patients underwent multimodal retinal imaging, including fundus photography, fundus autofluorescence (AF), optical coherence tomography (OCT), fluorescein angiography (FA), and indocyanine green angiography (ICGA); in select cases, electroretinography as well as antiretinal and anti-retinal pigment epithelium (RPE) antibody testing were also used. Exposure: Acute retinopathy. Main Outcomes and Measures: Clinical presentation and disease course. Results: Nine patients (8 [89%] female; mean [range] age, 43 [19-55] years) with acute retinopathy were identified in a cohort of 167 consecutive patients with PXE (frequency of 5%). Symptoms ranged from light sensations or metamorphopsia or color vision abnormalities to profound vision loss. Visual acuity was reduced in 6 patients (67%), ranging from a best-corrected visual acuity of 20/30 to perception of hand movements at manifestation. All patients revealed characteristic fundus features with temporary appearance of partly confluent outer retinal whitish dots at the posterior pole, which corresponded to areas of hyperautofluorescence on fundus AF, loss of the ellipsoid band on OCT, and associated scotomata. The FA and late-phase ICGA imaging showed associated hyperfluorescence and hypocyanescence. Electroretinography revealed a variable reduction of amplitudes. Changes were fully reversible within 1 month in 3 of 8 patients with available follow-up data. Of the remaining 5 patients, 3 had a prolonged and likely permanent vision loss (observation period, 1-64 months) mainly owing to central subretinal hyperreflective material originating from angioid streaks. In 4 (67%) of 6 tested, antiretinal and/or anti-RPE antibodies were detected. Conclusions and Relevance: Acute retinopathy in patients with PXE may occur, with symptoms ranging from short-term, reversible alterations to irreversible vision loss; these findings contribute to understanding the variable ocular disease progression in PXE and provide insights into the autoimmune phenomena of the posterior pole.

Original languageEnglish (US)
JournalJAMA ophthalmology
DOIs
StateAccepted/In press - Jan 1 2019

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Pseudoxanthoma Elasticum
Electroretinography
Indocyanine Green
Retinal Pigment Epithelium
Fluorescein Angiography
Vision Disorders
Optical Coherence Tomography
Visual Acuity
Angiography
Angioid Streaks
Multimodal Imaging
Scotoma
Color Vision
Eye Diseases
Antibodies
Photography
Ophthalmology

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Gliem, M., Birtel, J., Müller, P. L., Hendig, D., Faust, I., Herrmann, P., ... Charbel Issa, P. (Accepted/In press). Acute Retinopathy in Pseudoxanthoma Elasticum. JAMA ophthalmology. https://doi.org/10.1001/jamaophthalmol.2019.2910

Acute Retinopathy in Pseudoxanthoma Elasticum. / Gliem, Martin; Birtel, Johannes; Müller, Philipp L.; Hendig, Doris; Faust, Isabel; Herrmann, Philipp; Holz, Frank G.; Adamus, Grazyna; Charbel Issa, Peter.

In: JAMA ophthalmology, 01.01.2019.

Research output: Contribution to journalArticle

Gliem, M, Birtel, J, Müller, PL, Hendig, D, Faust, I, Herrmann, P, Holz, FG, Adamus, G & Charbel Issa, P 2019, 'Acute Retinopathy in Pseudoxanthoma Elasticum', JAMA ophthalmology. https://doi.org/10.1001/jamaophthalmol.2019.2910
Gliem M, Birtel J, Müller PL, Hendig D, Faust I, Herrmann P et al. Acute Retinopathy in Pseudoxanthoma Elasticum. JAMA ophthalmology. 2019 Jan 1. https://doi.org/10.1001/jamaophthalmol.2019.2910
Gliem, Martin ; Birtel, Johannes ; Müller, Philipp L. ; Hendig, Doris ; Faust, Isabel ; Herrmann, Philipp ; Holz, Frank G. ; Adamus, Grazyna ; Charbel Issa, Peter. / Acute Retinopathy in Pseudoxanthoma Elasticum. In: JAMA ophthalmology. 2019.
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