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视网膜内微血管异常和静脉串珠样改变在白种人非增殖性糖尿病视网膜病变患者中具有不同的遗传特征。

Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy.

作者信息

Pearce Elizabeth, Sivaprasad Sobha, Broadgate Suzanne, Kiire Christine, Downes Susan M, Halford Stephanie, Chong Victor

机构信息

King's College Hospital NHS Trust, London SE5 9RS, UK.

UCL Institute of Ophthalmology, London EC1V 9EL, UK.

出版信息

Vision (Basel). 2023 Mar 2;7(1):18. doi: 10.3390/vision7010018.

Abstract

Diabetic Retinopathy (DR) is a leading cause of preventable visual impairment in the working age population. Despite the increasing prevalence of DR, there remain gaps in our understanding of its pathophysiology. This is a prospective case-control study comparing the genetic profiles of patients with no DR vs. non-proliferative DR (NPDR) focusing on intraretinal microvascular abnormalities (IRMA) and venous beading (VB) in Caucasians. A total of 596 participants were recruited to the study; 199 with moderate/severe NPDR and 397 with diabetes for at least 5 years without DR. Sixty-four patients were excluded due to technical issues. In total, 532 were analysed; 181 and 351 were in the NPDR group and no DR group, respectively. Those with severe IRMA and VB had distinctly different genetic profiles from each other and from the no DR group, which further supports the theory that these two features of DR might have different etiologies. This also suggests that IRMA and VB are independent risk factors for the development of PDR and may have different pathophysiologies. If these findings are confirmed in larger studies, this could pave the way for personalised treatment options for those more at risk of developing different features of NPDR.

摘要

糖尿病视网膜病变(DR)是工作年龄人群中可预防视力损害的主要原因。尽管DR的患病率不断上升,但我们对其病理生理学的理解仍存在差距。这是一项前瞻性病例对照研究,比较了无DR患者与非增殖性DR(NPDR)患者的基因谱,重点关注高加索人群视网膜内微血管异常(IRMA)和静脉串珠样改变(VB)。共有596名参与者被纳入研究;199例患有中度/重度NPDR,397例患有糖尿病至少5年且无DR。64例患者因技术问题被排除。总共分析了532例;NPDR组和无DR组分别有181例和351例。患有严重IRMA和VB的患者彼此之间以及与无DR组的基因谱明显不同,这进一步支持了DR的这两个特征可能具有不同病因的理论。这也表明IRMA和VB是PDR发生的独立危险因素,可能具有不同的病理生理学。如果这些发现在更大规模的研究中得到证实,这可能为那些更易出现NPDR不同特征的患者提供个性化治疗方案铺平道路。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb61/10051057/2b38056fec62/vision-07-00018-g001.jpg

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