Pentosan polysulfate maculopathy versus inherited macular dystrophies: comparative assessment with multimodal imaging.

Abstract Purpose To evaluate whether pentosan polysulfate maculopathy manifests distinctive characteristics that permit differentiation from hereditary maculopathies with multimodal fundus imaging. Design Retrospective Review Subjects Emory Eye Center databases were queried for the following International Classification of Diseases (ICD) codes between May 20, 2014 through October 22, 2019: 362.70 (unspecified hereditary retinal dystrophy), 362.74 + H35.52 (pigmentary retinal dystrophy), 362.76 +H35.54 (dystrophies primarily involving the retinal pigment epithelium), and H35.50 (unspecified macular degeneration). Methods Fundus images for each patient were evaluated, including color fundus photographs, fundus autofluorescence images, and spectral domain optical coherence tomography images. Cases with imaging sufficient for diagnostic classification were analyzed. Masked graders classified patient images accordingly: A – Highly suggestive of PPS maculopathy, B—Some features resembling PPS maculopathy but not classic, C—Clearly distinct from PPS maculopathy. Main Outcome Measures Sensitivity and specificity for identification of PPS maculopathy by masked reviewers. Results A total of 1394 subjects were evaluated, and 1131 had sufficient imaging for classification. Fifteen patients were categorized as having findings highly suggestive of PPS maculopathy (Category A), 25 patients had some features resembling PPS maculopathy but not classic (Category B), and 1091 were clearly distinct from PPS maculopathy (Category C). All 10 patients with PPS maculopathy in this dataset were correctly placed in Category A. There were 5 patients without PPS maculopathy that were incorrectly placed in Category A. This represented a 100% sensitivity and 99.6% specificity for identification of PPS maculopathy by masked review of fundus imaging in this dataset. Conclusions The imaging characteristics of PPS maculopathy allow for differentiation from hereditary maculopathies even in the absence of known exposure to the drug.