Hyper-reflective retinal foci as possible in vivo imaging biomarker of microglia activation in von Hippel-Lindau disease.
<h4>Purpose</h4>von Hippel-Lindau (VHL) disease is caused by a mutation of the VHL gene and characterized by the development of retinal hemangioblastomas (RH). Current pathophysiologic mechanisms of RH development and progression are still insufficient to predict RH behavior. VHL gene is...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2022-01-01
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| Series: | PLoS ONE |
| Online Access: | https://doi.org/10.1371/journal.pone.0272318 |
| _version_ | 1817999680407076864 |
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| author | Elisabetta Pilotto Tommaso Torresin Maria Laura Bacelle Gilda De Mojà Alfonso Massimiliano Ferrara Stefania Zovato Giulia Midena Edoardo Midena |
| author_facet | Elisabetta Pilotto Tommaso Torresin Maria Laura Bacelle Gilda De Mojà Alfonso Massimiliano Ferrara Stefania Zovato Giulia Midena Edoardo Midena |
| author_sort | Elisabetta Pilotto |
| collection | DOAJ |
| description | <h4>Purpose</h4>von Hippel-Lindau (VHL) disease is caused by a mutation of the VHL gene and characterized by the development of retinal hemangioblastomas (RH). Current pathophysiologic mechanisms of RH development and progression are still insufficient to predict RH behavior. VHL gene is involved in the cellular response to hypoxia and in many intracellular signaling pathways expressed both in angiogenesis and inflammation. Optical coherence tomography (OCT) allows to identify hyper-reflective retinal foci (HRF) known as aggregates of activated microglial cells as possible in vivo biomarker of local inflammation. The aim of the present study was to investigate the presence of HRF in patients with genetically confirmed VHL disease.<h4>Methods</h4>In this cross-sectional study, patients with VHL underwent complete ophthalmological examination and OCT with HRA + OCT Spectralis. HRF were manually identified and calculated in inner (IR), outer (OR) and full retina. Age-matched healthy subjects were enrolled as controls.<h4>Results</h4>113 eyes of 63 VHL patients and 56 eyes of 28 healthy subjects were evaluated. HRF number was significantly higher in VHL than in controls in IR (28.06 ± 7.50 vs 25.25 ± 6.64, p = 0.042). No difference was observed in OR and in full retina (OR: 7.73 ± 2.59 vs 7.95 ± 2.51, p = 0.599; full retina: 35.79 ± 8.77 vs 33.20 ± 7.47, p = 0.093).<h4>Conclusion</h4>The increase of HRF, which mirror retinal microglial activation, characterizes VHL eyes. The role of activated microglia in the retina of VHL eyes needs to be better investigated, mainly considering local VHL disease manifestations. |
| first_indexed | 2024-04-14T03:12:14Z |
| format | Article |
| id | doaj.art-1d4ed615fe704eb396bfd1120eedb850 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-04-14T03:12:14Z |
| publishDate | 2022-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-1d4ed615fe704eb396bfd1120eedb8502022-12-22T02:15:34ZengPublic Library of Science (PLoS)PLoS ONE1932-62032022-01-01178e027231810.1371/journal.pone.0272318Hyper-reflective retinal foci as possible in vivo imaging biomarker of microglia activation in von Hippel-Lindau disease.Elisabetta PilottoTommaso TorresinMaria Laura BacelleGilda De MojàAlfonso Massimiliano FerraraStefania ZovatoGiulia MidenaEdoardo Midena<h4>Purpose</h4>von Hippel-Lindau (VHL) disease is caused by a mutation of the VHL gene and characterized by the development of retinal hemangioblastomas (RH). Current pathophysiologic mechanisms of RH development and progression are still insufficient to predict RH behavior. VHL gene is involved in the cellular response to hypoxia and in many intracellular signaling pathways expressed both in angiogenesis and inflammation. Optical coherence tomography (OCT) allows to identify hyper-reflective retinal foci (HRF) known as aggregates of activated microglial cells as possible in vivo biomarker of local inflammation. The aim of the present study was to investigate the presence of HRF in patients with genetically confirmed VHL disease.<h4>Methods</h4>In this cross-sectional study, patients with VHL underwent complete ophthalmological examination and OCT with HRA + OCT Spectralis. HRF were manually identified and calculated in inner (IR), outer (OR) and full retina. Age-matched healthy subjects were enrolled as controls.<h4>Results</h4>113 eyes of 63 VHL patients and 56 eyes of 28 healthy subjects were evaluated. HRF number was significantly higher in VHL than in controls in IR (28.06 ± 7.50 vs 25.25 ± 6.64, p = 0.042). No difference was observed in OR and in full retina (OR: 7.73 ± 2.59 vs 7.95 ± 2.51, p = 0.599; full retina: 35.79 ± 8.77 vs 33.20 ± 7.47, p = 0.093).<h4>Conclusion</h4>The increase of HRF, which mirror retinal microglial activation, characterizes VHL eyes. The role of activated microglia in the retina of VHL eyes needs to be better investigated, mainly considering local VHL disease manifestations.https://doi.org/10.1371/journal.pone.0272318 |
| spellingShingle | Elisabetta Pilotto Tommaso Torresin Maria Laura Bacelle Gilda De Mojà Alfonso Massimiliano Ferrara Stefania Zovato Giulia Midena Edoardo Midena Hyper-reflective retinal foci as possible in vivo imaging biomarker of microglia activation in von Hippel-Lindau disease. PLoS ONE |
| title | Hyper-reflective retinal foci as possible in vivo imaging biomarker of microglia activation in von Hippel-Lindau disease. |
| title_full | Hyper-reflective retinal foci as possible in vivo imaging biomarker of microglia activation in von Hippel-Lindau disease. |
| title_fullStr | Hyper-reflective retinal foci as possible in vivo imaging biomarker of microglia activation in von Hippel-Lindau disease. |
| title_full_unstemmed | Hyper-reflective retinal foci as possible in vivo imaging biomarker of microglia activation in von Hippel-Lindau disease. |
| title_short | Hyper-reflective retinal foci as possible in vivo imaging biomarker of microglia activation in von Hippel-Lindau disease. |
| title_sort | hyper reflective retinal foci as possible in vivo imaging biomarker of microglia activation in von hippel lindau disease |
| url | https://doi.org/10.1371/journal.pone.0272318 |
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