[Skip to Content]
[Skip to Content Landing]
Views 533
Citations 0
Original Investigation
August 8, 2019

Acute Retinopathy in Pseudoxanthoma Elasticum

Author Affiliations
  • 1Department of Ophthalmology, University of Bonn, Bonn, Germany
  • 2Center for Rare Diseases Bonn (ZSEB), University of Bonn, Bonn, Germany
  • 3Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom
  • 4Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom
  • 5Institute for Laboratory and Transfusion Medicine, Heart and Diabetes, Center North Rhine-Westphalia, University Hospital of the Ruhr University of Bochum, Bad Oeynhausen, Germany
  • 6Ocular Immunology Laboratory, Casey Eye Institute, Oregon Health and Science University, Portland
JAMA Ophthalmol. Published online August 8, 2019. doi:10.1001/jamaophthalmol.2019.2910
Key Points

Question  Is the ocular disease manifestation in patients with pseudoxanthoma elasticum influenced by processes different from calcification or neovascularization?

Findings  In this single-center case series of 167 consecutive patients with pseudoxanthoma elasticum, 9 were identified with an acute onset of a characteristic retinopathy, with symptoms ranging from short-term, reversible alterations to irreversible vision loss; all patients showed fundus alterations with similarities to multiple evanescent white dot syndrome.

Meaning  These findings offer an additional explanation for the variable ocular phenotype and disease progression in patients with pseudoxanthoma elasticum and may suggest a possible ocular autoimmune process.


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.