Multimodal fundus imaging of pseudoxanthoma elasticum

To investigate spectral domain optical coherence tomography and autofluorescence findings in eyes with pseudoxanthoma elasticum.

A retrospective analysis of visual acuity, spectral domain optical coherence tomography, and autofluorescence findings of consecutive patients with pseudoxanthoma elasticum was performed. The spectral domain optical coherence tomography was evaluated for retinal architecture, subretinal accumulations, and photoreceptor layer thickness. Autofluorescence and near-infrared reflectance images were reviewed for correlative findings.

There were 21 patients (42 eyes) with pseudoxanthoma elasticum with a mean age of 56.1 ± 12.4 years. Subretinal fluid was found in 14 eyes, 7 of which had no signs of choroidal neovascularization. In six of the seven eyes with a history of choroidal neovascularization controlled with antivascular endothelial growth factor injections, there were areas of subretinal fluid that were not contiguous with the choroidal neovascularization and did not seem responsive to antivascular endothelial growth factor injections. Two types of formed material were observed in the subretinal space and outer retina. The first was hypoautofluorescent deposits above the retinal pigment epithelium resembling subretinal drusenoid deposits (reticular pseudodrusen). The second was yellow to brown hyperautofluorescent aggregates in the subretinal space and outer retina similar to those seen in pattern dystrophies and was found in 19 eyes. There was an apparent association between the presence of subretinal fluid and pattern dystrophy-like findings.

Subretinal fluid in patients with pseudoxanthoma elasticum is not always indicative of active leakage from underlying choroidal neovascularization and can be resistant to antivascular endothelial growth factor injections. This fluid is associated with pattern dystrophy-like findings and may indicate abnormal retinal pigment epithelial function.