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用于治疗卡恩斯-塞尔综合征增殖性糖尿病视网膜病变的抗血管内皮生长因子疗法。

Anti-VEGF therapy for proliferative diabetic retinopathy in Kearns-Sayre syndrome.

作者信息

Leung Vannessa, Wong James G, Grigg John R

机构信息

Save Sight Institute Faculty of Medicine and Health, University of Sydney, Sydney, Australia.

Sydney Eye Hospital, Macquarie St, Sydney, NSW, 2000, Australia.

出版信息

Doc Ophthalmol. 2025 Feb;150(1):41-46. doi: 10.1007/s10633-024-09999-2. Epub 2024 Dec 27.

DOI:10.1007/s10633-024-09999-2
PMID:39729257
Abstract

PURPOSE

Multiple mitochondrial syndromes, such as Kearns-Sayre, involve the concurrence of diabetes mellitus and inherited pigmentary retinopathy. It is rare, however, for proliferative disease to develop in these patients as existing inner retinal dysfunction is thought to be protective.

METHODS

To our knowledge this is the first description of proliferative diabetic retinopathy (PDR) in Kearns-Sayre syndrome.

CONCLUSION

A number of additional considerations need to be recognised when treating PDR in Kearns-Sayre syndrome. Given the risk of further visual field losses with panretinal photocoagulation, there should be a preference for primary anti-VEGF therapy in a compliant patient. PDR in inherited retinal disease appears to be very anti-VEGF responsive and may not require the standard monthly frequency of treatment, even from initiation.

摘要

目的

多种线粒体综合征,如卡恩斯-塞尔综合征,涉及糖尿病和遗传性色素性视网膜病变的并发。然而,这些患者发生增殖性疾病较为罕见,因为现有的视网膜内层功能障碍被认为具有保护作用。

方法

据我们所知,这是首次对卡恩斯-塞尔综合征患者的增殖性糖尿病视网膜病变(PDR)进行描述。

结论

在治疗卡恩斯-塞尔综合征患者的PDR时,需要认识到一些其他的注意事项。鉴于全视网膜光凝有进一步导致视野丧失的风险,对于依从性好的患者,应优先选择抗血管内皮生长因子(VEGF)初始治疗。遗传性视网膜疾病中的PDR似乎对抗VEGF治疗反应非常敏感,甚至从一开始可能就不需要标准的每月治疗频率。

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引用本文的文献

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Response: Aflibercept for the treatment of pigmentary retinopathy in Kearns-Sayre Syndrome?回应:阿柏西普用于治疗卡恩斯-塞尔综合征中的色素性视网膜病变?
Doc Ophthalmol. 2025 Jun;150(3):199-200. doi: 10.1007/s10633-025-10023-4. Epub 2025 May 20.
2
Aflibercept for the treatment of pigmentary retinopathy in Kearns-Sayre syndrome?阿柏西普用于治疗卡恩斯-塞尔综合征的色素性视网膜病变?
Doc Ophthalmol. 2025 Jun;150(3):197-198. doi: 10.1007/s10633-025-10022-5. Epub 2025 May 20.

本文引用的文献

1
Visual Field Changes Over 5 Years in Patients Treated With Panretinal Photocoagulation or Ranibizumab for Proliferative Diabetic Retinopathy.5 年内接受全视网膜光凝或雷珠单抗治疗增生性糖尿病视网膜病变患者的视野变化。
JAMA Ophthalmol. 2020 Mar 1;138(3):285-293. doi: 10.1001/jamaophthalmol.2019.5939.
2
Panretinal Photocoagulation vs Intravitreous Ranibizumab for Proliferative Diabetic Retinopathy: A Randomized Clinical Trial.全视网膜光凝与玻璃体内注射雷珠单抗治疗增殖性糖尿病视网膜病变的随机临床试验
JAMA. 2015 Nov 24;314(20):2137-2146. doi: 10.1001/jama.2015.15217.
3
The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.
线粒体糖尿病的临床表现、诊断及管理范围
Pediatr Diabetes. 2015 Feb;16(1):1-9. doi: 10.1111/pedi.12223. Epub 2014 Oct 20.
4
Retinitis pigmentosa reduces the risk of proliferative diabetic retinopathy: a nationwide population-based cohort study.色素性视网膜炎降低增生性糖尿病性视网膜病变的风险:一项全国基于人群的队列研究。
PLoS One. 2012;7(9):e45189. doi: 10.1371/journal.pone.0045189. Epub 2012 Sep 28.
5
The absence of diabetic retinopathy in patients with retinitis pigmentosa: implications for pathophysiology and possible treatment.色素性视网膜炎患者中无糖尿病性视网膜病变:对病理生理学及可能治疗方法的启示
Br J Ophthalmol. 2001 Mar;85(3):366-70. doi: 10.1136/bjo.85.3.366.
6
The negative coincidence of retinitis pigmentosa and proliferative diabetic retinopathy.视网膜色素变性与增殖性糖尿病视网膜病变的负性巧合。
Am J Ophthalmol. 1984 Jun;97(6):788-9. doi: 10.1016/0002-9394(84)90518-x.