Rate of misdiagnosis and clinical usefulness of the correct diagnosis in exudative neovascular maculopathy secondary to AMD versus pachychoroid disease

Abstract

The aim of this study was to explore the relative prevalence and clinical differences between age-related macular degeneration (AMD) and pachychoroid disease in patients older than 50 years with newly diagnosed exudative neovascular maculopathy, and also assess the rate of misdiagnosis between these two disorders. In this retrospective observational study, we reviewed data from patients 50 years of age and older with newly diagnosed treatment-naïve exudative macular neovascularization (MNV) secondary to AMD or pachychoroid disease. Of the 139 patients (139 eyes) who fulfilled the inclusion criteria, 35 patients were graded as being affected by pachychoroid disease complicated by exudative MNV and 104 subjects had neovascular AMD. Therefore, prevalence of pachychoroid disease complicated by exudative MNV was 25.2% (confidence interval—CI 18.2–33.2%). Mean ± SD age was 67.0 ± 8.8 years in the pachychoroid disease group and 80.6 ± 6.6 years in the neovascular AMD group (P < 0.0001). At baseline, BCVA was better in patients with pachychoroid disease complicated by exudative MNV (0.4 ± 0.3 LogMAR vs. 0.7 ± 0.5 LogMAR, P = 0.003). At the 1-year follow-up visit, BCVA was still better in patients with pachychoroid-associated MNV (0.34 ± 0.32 LogMAR vs. 0.59 ± 0.52 LogMAR; P = 0.005). In our study cohort, 19 patients were graded to be affected by pachychoroid disease complicated by exudative MNV even though a diagnosis of neovascular AMD was erroneously reported in their medical records at baseline. In conclusion, pachychoroid disease is a frequent cause of exudative MNV in aged patients with a high rate of misdiagnosis. A correct diagnosis may be important as these two disorders differ in terms of clinical characteristics and prognosis.

Clustering of eyes with age-related macular degeneration or pachychoroid spectrum diseases based on choroidal thickness profile

“…This difference may be due to the fact that in this study we were better able to measure thicker choroids using SS-OCT 45 , 46 . It may also be due to the fact that in this study, we classified PNV separately, since some eyes that were previously classified as classic exudative AMD were classified as PNV 5 , 9 , 47 . Although CT was not used in the PNV diagnostic criteria in this study, it ay be due to the fact that PNV has a thicker CT than classic exudative AMD.…”

“…Additionally, several diseases that share the characteristic of choroidal vessel engorgement or thickening 3 – 6 , are classified into pachychoroid spectrum diseases (PSDs). However, it is unclear whether the PCV and PNV are variants of AMD or a distinct disease entity 8 , and it is often difficult to differentiate PCV and PNV from typical neovascular AMD 9 .…”

InCASEOf scoring system for distinction between pachychoroid-associated macular neovascularization and neovascular age-related macular degeneration in patients older than 50 years

“…In a retrospective analysis, Miyake et al 2 found that at least 20% of eyes diagnosed as having AMD before the advent of the “pachychoroid era”, should have been diagnosed as pMNVs instead. Similarly, in a recent study, Borrelli et al 12 reported that the pMNV prevalence in their study cohort was 25.2%. Most interestingly, 15.4% of pMNV patients had been misdiagnosed as AMD patients.…”

“…The pachychoroid phenotype predisposes to a spectrum of diseases including pachychoroid pigment epitheliopathy, central serous chorioretinopathy (CSC), pachychoroid neovasculopathy (PNV), polypoidal choroidal vasculopathy/aneurysmal type 1 neovascularization, focal choroidal excavation, peripapillary pachychoroid syndrome, and pachychoroid geographic atrophy 3 , 5 – 10 . Noteworthily, the occurrence or exudation of MNV may complicate all pachychoroid disorders (pMNV) 6 , 9 – 12 .…”

Classification of Pachychoroid on Optical Coherence Tomographic En Face Images Using Deep Convolutional Neural Networks

“…Second, the definition of pachychoroid may be controversial. Borrelli et al 31 reported that15.4% of neovascular AMD subjects were re-evaluated as pachychoroid. We minimized the controversy by specifying the quantitative value of SFCT and exploring multimodal images by two graders in setting the ground truth.…”