Drusenoid Pigment Epithelial Detachment: Genetic and Clinical Characteristics
Few studies report drusenoid pigment epithelial detachment (DPED) in Asians. In this multicenter study, we report the clinical and genetic characteristics of 76 patients with DPED, and, for comparison, 861 patients with exudative age-related macular degeneration (AMD) were included. On the initial p...
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MDPI AG
2021-04-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/22/8/4074 |
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| author | Taiyo Shijo Yoichi Sakurada Koji Tanaka Akiko Miki Seigo Yoneyama Yumiko Machida Aya Chubachi Yu Wakatsuki Atsushi Sugiyama Hajime Onoe Wataru Kikushima Ryusaburo Mori Kenji Kashiwagi |
| author_facet | Taiyo Shijo Yoichi Sakurada Koji Tanaka Akiko Miki Seigo Yoneyama Yumiko Machida Aya Chubachi Yu Wakatsuki Atsushi Sugiyama Hajime Onoe Wataru Kikushima Ryusaburo Mori Kenji Kashiwagi |
| author_sort | Taiyo Shijo |
| collection | DOAJ |
| description | Few studies report drusenoid pigment epithelial detachment (DPED) in Asians. In this multicenter study, we report the clinical and genetic characteristics of 76 patients with DPED, and, for comparison, 861 patients with exudative age-related macular degeneration (AMD) were included. On the initial presentation, the mean best-corrected visual acuity was 0.087 ± 0.17 (logMAR unit), and mean DPED height and width were 210 ± 132 and 1633 ± 1114 µm, respectively. Fifty-one (67%) patients showed macular neovascularization in the contralateral eye. The risk allele frequency of both <i>ARMS2</i> A69S and <i>CFH</i> I62V was significantly higher in DPED than in typical AMD and polypoidal choroidal vasculopathy (PCV) (<i>ARMS2</i> A69S risk allele frequency: DPED 77% vs. typical AMD 66% vs. PCV 57%, <i>CFH</i> I62V risk allele frequency: DPED 87% vs. typical AMD 73% vs. PCV 73%), although the risk allele frequency of both genes was similar between the DPED group and retinal angiomatous proliferation (RAP) group (<i>ARMS2</i> A69S: <i>p</i> = 0.32, <i>CFH</i> I62V, <i>p</i> = 0.11). The prevalence of reticular pseudodrusen (RPD) was highest in RAP (60%), followed by DPED (22%), typical AMD (20%), and PCV (2%). Although the prevalence of RPD differs between DPED and RAP, these entities share a similar genetic background in terms of <i>ARMS2</i> and <i>CFH</i> genes. |
| first_indexed | 2024-03-09T04:57:44Z |
| format | Article |
| id | doaj.art-05081be9d50a45a3a8550eb8dd84d584 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T04:57:44Z |
| publishDate | 2021-04-01 |
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| series | International Journal of Molecular Sciences |
| spelling | doaj.art-05081be9d50a45a3a8550eb8dd84d5842023-12-03T13:03:05ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672021-04-01228407410.3390/ijms22084074Drusenoid Pigment Epithelial Detachment: Genetic and Clinical CharacteristicsTaiyo Shijo0Yoichi Sakurada1Koji Tanaka2Akiko Miki3Seigo Yoneyama4Yumiko Machida5Aya Chubachi6Yu Wakatsuki7Atsushi Sugiyama8Hajime Onoe9Wataru Kikushima10Ryusaburo Mori11Kenji Kashiwagi12 Departments of Ophthalmology, Faculty of Medicine, University of Yamanashi, Kofu 400-8510, Japan Departments of Ophthalmology, Faculty of Medicine, University of Yamanashi, Kofu 400-8510, Japan Department of Ophthalmology, Nihon University School of Medicine, Tokyo 173-8610, Japan Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan Departments of Ophthalmology, Faculty of Medicine, University of Yamanashi, Kofu 400-8510, Japan Department of Ophthalmology, Nihon University School of Medicine, Tokyo 173-8610, Japan Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan Department of Ophthalmology, Nihon University School of Medicine, Tokyo 173-8610, Japan Departments of Ophthalmology, Faculty of Medicine, University of Yamanashi, Kofu 400-8510, Japan Department of Ophthalmology, Nihon University School of Medicine, Tokyo 173-8610, Japan Departments of Ophthalmology, Faculty of Medicine, University of Yamanashi, Kofu 400-8510, Japan Department of Ophthalmology, Nihon University School of Medicine, Tokyo 173-8610, Japan Departments of Ophthalmology, Faculty of Medicine, University of Yamanashi, Kofu 400-8510, JapanFew studies report drusenoid pigment epithelial detachment (DPED) in Asians. In this multicenter study, we report the clinical and genetic characteristics of 76 patients with DPED, and, for comparison, 861 patients with exudative age-related macular degeneration (AMD) were included. On the initial presentation, the mean best-corrected visual acuity was 0.087 ± 0.17 (logMAR unit), and mean DPED height and width were 210 ± 132 and 1633 ± 1114 µm, respectively. Fifty-one (67%) patients showed macular neovascularization in the contralateral eye. The risk allele frequency of both <i>ARMS2</i> A69S and <i>CFH</i> I62V was significantly higher in DPED than in typical AMD and polypoidal choroidal vasculopathy (PCV) (<i>ARMS2</i> A69S risk allele frequency: DPED 77% vs. typical AMD 66% vs. PCV 57%, <i>CFH</i> I62V risk allele frequency: DPED 87% vs. typical AMD 73% vs. PCV 73%), although the risk allele frequency of both genes was similar between the DPED group and retinal angiomatous proliferation (RAP) group (<i>ARMS2</i> A69S: <i>p</i> = 0.32, <i>CFH</i> I62V, <i>p</i> = 0.11). The prevalence of reticular pseudodrusen (RPD) was highest in RAP (60%), followed by DPED (22%), typical AMD (20%), and PCV (2%). Although the prevalence of RPD differs between DPED and RAP, these entities share a similar genetic background in terms of <i>ARMS2</i> and <i>CFH</i> genes.https://www.mdpi.com/1422-0067/22/8/4074drusenoid pigment epithelial detachment<i>ARMS2</i><i>CFH</i>reticular pseudodrusen |
| spellingShingle | Taiyo Shijo Yoichi Sakurada Koji Tanaka Akiko Miki Seigo Yoneyama Yumiko Machida Aya Chubachi Yu Wakatsuki Atsushi Sugiyama Hajime Onoe Wataru Kikushima Ryusaburo Mori Kenji Kashiwagi Drusenoid Pigment Epithelial Detachment: Genetic and Clinical Characteristics International Journal of Molecular Sciences drusenoid pigment epithelial detachment <i>ARMS2</i> <i>CFH</i> reticular pseudodrusen |
| title | Drusenoid Pigment Epithelial Detachment: Genetic and Clinical Characteristics |
| title_full | Drusenoid Pigment Epithelial Detachment: Genetic and Clinical Characteristics |
| title_fullStr | Drusenoid Pigment Epithelial Detachment: Genetic and Clinical Characteristics |
| title_full_unstemmed | Drusenoid Pigment Epithelial Detachment: Genetic and Clinical Characteristics |
| title_short | Drusenoid Pigment Epithelial Detachment: Genetic and Clinical Characteristics |
| title_sort | drusenoid pigment epithelial detachment genetic and clinical characteristics |
| topic | drusenoid pigment epithelial detachment <i>ARMS2</i> <i>CFH</i> reticular pseudodrusen |
| url | https://www.mdpi.com/1422-0067/22/8/4074 |
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