Acute retinopathy may, in some cases, explain vision loss and other disease manifestations in patients with pseudoxanthoma elasticum (PXE), according to researchers based in Germany.

The team reviewed 167 patients with PXE from May 2013 to October 2018. The subjects underwent various imaging exams—including fundus photography, fundus autofluorescence (FAF), OCT, fluorescein angiography (FA), indocyanine green angiography (ICGA) and, in some cases, electroretinography and antiretinal and antiretinal pigment epithelium (RPE) antibody testing. In nine patients the researchers identified acute retinopathy, with symptoms ranging from short-term, reversible alterations to irreversible vision loss. All nine had fundus alterations, including similarities with multiple evanescent white dot syndrome, the JAMA Ophthalmology publication shows.

The various tests indicate that, of the nine with retinopathy, 67% experienced visual acuity reductions. All patients revealed characteristic fundus features with temporary appearance of partly confluent outer retinal whitish dots at the posterior pole, which corresponded with areas of hyperautofluorescence on fundus FAF, 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.

Three patients were lucky enough to have had fully reversible changes. Another three had prolonged and likely permanent vision loss due primarily to central subretinal hyperreflective material originating from angioid streaks. Antiretinal or anti-RPE antibodies, or both, were detected in 67%. The research team hopes these findings will contribute to the understanding of variable ocular disease progression in PXE and provide insights into the autoimmune phenomena of the posterior pole, the report says.

Glien M, Birtel J, Muller P, et al. Acute retinopathy in pseudoxanthoma elasticum. JAMA Ophthalmol. August 8, 2019. [Epub ahead of print].