Relationships between causative genes and epiretinal membrane formation in Japanese patients with retinitis pigmentosa.

IF 2.4 3区医学 Q2 OPHTHALMOLOGY Graefe’s Archive for Clinical and Experimental Ophthalmology Pub Date : 2024-11-01 Epub Date: 2024-06-05 DOI:10.1007/s00417-024-06534-6

Shun Nakamura, Kohta Fujiwara, Masatoshi Fukushima, Sakurako Shimokawa, Shotaro Shimokawa, Yoshito Koyanagi, Toshio Hisatomi, Atsunobu Takeda, Ikeda Yasuhiro, Yusuke Murakami, Koh-Hei Sonoda

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Abstract

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.

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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。

目的：研究日本视网膜色素变性（RP）患者黄斑并发症与常见致病基因之间的关系：在这项回顾性观察研究中，我们分析了在九州大学医院接受随访的 75 例视网膜色素变性患者（EYS-RP：42 例；USH2A-RP：19 例；RHO-RP：14 例）的数据，这些患者的致病基因已被确定。使用光学相干断层扫描和眼底照相术评估了黄斑并发症，包括视网膜外膜（ERM）、黄斑水肿（ME）和黄斑孔（MH）。主要结果是黄斑并发症的比例：结果：ERM的比例在EYS组为35.7%，在USH2A组为10.5%，在RHO组为14.3%。ME的比例在EYS组为7.1%，USH2A组为5.3%，RHO组为14.3%；MH的比例在EYS组为2.4%，USH2A组为5.3%，RHO组为0%。在 EYS 组中，ERM 的比例相对较高（p = 0.06），而且 EYS 的存在与 ERM 的年龄和性别调整 OR 值较高显著相关（OR = 5.67，95% CI = 1.59-25.20）。在致病基因中，MH或ME的比例没有明显差异：结论：EYS致病基因可能与RP较高的ERM并发症发生率有关。

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来源期刊

Graefe’s Archive for Clinical and Experimental Ophthalmology 医学-眼科学

CiteScore

5.40

自引率

7.40%

发文量

398

审稿时长

3 months

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.