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- W4296111381 abstract "Purpose: To describe a patient with concurrent pseudoxanthoma elasticum (PXE) and Cowden syndrome who developed choroidal neovascularization (CNV) secondary to angioid streaks. The CNV presented at a young age and was relatively refractory to intravitreal antivascular endothelial growth factor (anti-VEGF) therapy. Methods: A retrospective chart review was performed. Results: A 32-year-old man was treated for bilateral sequential CNV over 11 years. Good visual acuity was maintained with 53 anti-VEGF injections in the right eye and 82 injections in the left eye. On average, 1 injection was administered every 1.7 months in each eye to control the exudation. A skin biopsy and genetic testing confirmed a diagnosis of PXE. He was also found to harbor a PTEN mutation consistent with Cowden syndrome. Conclusions: The concurrent PTEN mutation lends a possible explanation for the relative resistance of CNV to anti-VEGF therapy in this patient with PXE. Phosphatase and tensin homolog is a tumor suppressor that negatively regulates the VEGF pathway." @default.
- W4296111381 created "2022-09-17" @default.
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- W4296111381 date "2022-09-08" @default.
- W4296111381 modified "2023-09-27" @default.
- W4296111381 title "Refractory Choroidal Neovascularization in a Patient With Pseudoxanthoma Elasticum and Cowden Syndrome" @default.
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- W4296111381 doi "https://doi.org/10.1177/24741264221117013" @default.
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