{"title":"日本视网膜色素变性患者的致病基因与视网膜外膜形成之间的关系。","authors":"Shun Nakamura, Kohta Fujiwara, Masatoshi Fukushima, Sakurako Shimokawa, Shotaro Shimokawa, Yoshito Koyanagi, Toshio Hisatomi, Atsunobu Takeda, Ikeda Yasuhiro, Yusuke Murakami, Koh-Hei Sonoda","doi":"10.1007/s00417-024-06534-6","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the relationships between macular complications and causative genes frequently found in Japanese patients with retinitis pigmentosa (RP).</p><p><strong>Methods: </strong>In the retrospective and observational study, we analyzed the data of 75 patients with RP (EYS-RP: 42 patients; USH2A-RP: 19 patients; RHO-RP: 14 patients) who were followed-up at Kyushu University Hospital and whose causative genes had been identified. Macular complications including epiretinal membrane (ERM), macular edema (ME), and macular hole (MH) were evaluated using optical coherence tomography and fundus photography. Main outcome was the proportion of macular complications.</p><p><strong>Results: </strong>The proportion of ERM was 35.7% in the EYS group, 10.5% in the USH2A group and 14.3% in the RHO group. The proportion of ME was 7.1% in the EYS group, 5.3% in the USH2A group and 14.3% in the RHO group, and that of MH was 2.4% in the EYS group, 5.3% in the USH2A group and 0% in the RHO group. In the EYS group, the proportion of ERM was relatively higher (p = 0.06), and the presence of EYS was significantly associated with a higher age- and sex-adjusted OR for ERM (OR = 5.67, 95% CI = 1.59-25.20). There was no significant difference in the proportion of MH or ME among causative genes.</p><p><strong>Conclusions: </strong>EYS causative gene may be associated with higher rate of ERM complication in RP.</p>","PeriodicalId":12795,"journal":{"name":"Graefe’s Archive for Clinical and Experimental Ophthalmology","volume":" ","pages":"3553-3558"},"PeriodicalIF":2.4000,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Relationships between causative genes and epiretinal membrane formation in Japanese patients with retinitis pigmentosa.\",\"authors\":\"Shun Nakamura, Kohta Fujiwara, Masatoshi Fukushima, Sakurako Shimokawa, Shotaro Shimokawa, Yoshito Koyanagi, Toshio Hisatomi, Atsunobu Takeda, Ikeda Yasuhiro, Yusuke Murakami, Koh-Hei Sonoda\",\"doi\":\"10.1007/s00417-024-06534-6\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>To investigate the relationships between macular complications and causative genes frequently found in Japanese patients with retinitis pigmentosa (RP).</p><p><strong>Methods: </strong>In the retrospective and observational study, we analyzed the data of 75 patients with RP (EYS-RP: 42 patients; USH2A-RP: 19 patients; RHO-RP: 14 patients) who were followed-up at Kyushu University Hospital and whose causative genes had been identified. Macular complications including epiretinal membrane (ERM), macular edema (ME), and macular hole (MH) were evaluated using optical coherence tomography and fundus photography. Main outcome was the proportion of macular complications.</p><p><strong>Results: </strong>The proportion of ERM was 35.7% in the EYS group, 10.5% in the USH2A group and 14.3% in the RHO group. The proportion of ME was 7.1% in the EYS group, 5.3% in the USH2A group and 14.3% in the RHO group, and that of MH was 2.4% in the EYS group, 5.3% in the USH2A group and 0% in the RHO group. In the EYS group, the proportion of ERM was relatively higher (p = 0.06), and the presence of EYS was significantly associated with a higher age- and sex-adjusted OR for ERM (OR = 5.67, 95% CI = 1.59-25.20). There was no significant difference in the proportion of MH or ME among causative genes.</p><p><strong>Conclusions: </strong>EYS causative gene may be associated with higher rate of ERM complication in RP.</p>\",\"PeriodicalId\":12795,\"journal\":{\"name\":\"Graefe’s Archive for Clinical and Experimental Ophthalmology\",\"volume\":\" \",\"pages\":\"3553-3558\"},\"PeriodicalIF\":2.4000,\"publicationDate\":\"2024-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Graefe’s Archive for Clinical and Experimental Ophthalmology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s00417-024-06534-6\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/6/5 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"OPHTHALMOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Graefe’s Archive for Clinical and Experimental Ophthalmology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00417-024-06534-6","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/6/5 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
Relationships between causative genes and epiretinal membrane formation in Japanese patients with retinitis pigmentosa.
Purpose: To investigate the relationships between macular complications and causative genes frequently found in Japanese patients with retinitis pigmentosa (RP).
Methods: In the retrospective and observational study, we analyzed the data of 75 patients with RP (EYS-RP: 42 patients; USH2A-RP: 19 patients; RHO-RP: 14 patients) who were followed-up at Kyushu University Hospital and whose causative genes had been identified. Macular complications including epiretinal membrane (ERM), macular edema (ME), and macular hole (MH) were evaluated using optical coherence tomography and fundus photography. Main outcome was the proportion of macular complications.
Results: The proportion of ERM was 35.7% in the EYS group, 10.5% in the USH2A group and 14.3% in the RHO group. The proportion of ME was 7.1% in the EYS group, 5.3% in the USH2A group and 14.3% in the RHO group, and that of MH was 2.4% in the EYS group, 5.3% in the USH2A group and 0% in the RHO group. In the EYS group, the proportion of ERM was relatively higher (p = 0.06), and the presence of EYS was significantly associated with a higher age- and sex-adjusted OR for ERM (OR = 5.67, 95% CI = 1.59-25.20). There was no significant difference in the proportion of MH or ME among causative genes.
Conclusions: EYS causative gene may be associated with higher rate of ERM complication in RP.
期刊介绍：
Graefe''s Archive for Clinical and Experimental Ophthalmology is a distinguished international journal that presents original clinical reports and clini-cally relevant experimental studies. Founded in 1854 by Albrecht von Graefe to serve as a source of useful clinical information and a stimulus for discussion, the journal has published articles by leading ophthalmologists and vision research scientists for more than a century. With peer review by an international Editorial Board and prompt English-language publication, Graefe''s Archive provides rapid dissemination of clinical and clinically related experimental information.
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