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25 岁女性合并视网膜中央静脉和睫状视网膜动脉阻塞。

Combined central retinal vein and cilioretinal artery occlusion in a 25-year-old woman.

机构信息

Department of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland.

Department of Ophthalmology, Kornel Gibiński University Clinical Center, Medical University of Silesia, Katowice, Poland.

出版信息

Rom J Ophthalmol. 2022 Apr-Jun;66(2):178-184. doi: 10.22336/rjo.2022.35.

DOI:10.22336/rjo.2022.35
PMID:35935085
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9289772/
Abstract

We report a case of a 25-year-old woman with sudden and painless diminution in vision and central scotoma in her left eye (LE). She was a smoker and had been taking combined oral contraceptive (COC) pills for 1 year. On admission, the best-corrected visual acuity (BCVA) was 1,5/50 in the LE. Posterior segment examination revealed optic disc edema with flame-shaped retinal hemorrhages, mildly tortuous and dilated retinal veins. Moreover, retinal edema in the peripapillary and perimacular region, foci of hemorrhages and Roth's spots in the posterior pole, as well as pale superior papillomacular bundle were observed. Fundus fluorescein angiography (FFA) confirmed the delayed flow of contrast through the cilioretinal artery in the LE. The clinical picture suggested left central retinal vein (CRVO) with cilioretinal artery occlusion (CLRAO). All laboratory and imaging tests were normal except for homozygous methylenetetrahydrofolate reductase (MTHFR) gene mutation (A1298C genotypes). However, serum homocysteine (Hcy) level was normal. Low molecular weight heparin (LMWH) treatment was administered. Retinal lesions, as well as BCVA improved, but central scotoma remained. aPTT = activated partial thromboplastin time, BCVA = best-corrected visual acuity, CBC = complete blood count, CLRAO = cilioretinal artery occlusion, COC = combined oral contraceptive, CRA = central retinal artery, CRP = serum C-reactive protein, CRVO = central retinal vein occlusion, CT = computed tomography, CTA = computed tomography angiography, ECG = electrocardiography, ESR = erythrocyte sedimentation rate, FERG = flash electroretinogram, FFA = fundus fluorescein angiography, GCA = ganglion cell analysis, GCL = ganglion cell layer, Hcy = homocysteine, ICGA = indocyanine green angiography, INR = international normalized ratio, IOP = intraocular pressure, IPL = inner plexiform layer, LE = left eye, LMWH = low molecular weight heparin, mfERG = multifocal electroretinogram, MTHFR = methylenetetrahydrofolate reductase, OCT = optical coherence tomography, RE = right eye, VF = visual field.

摘要

我们报告了一例 25 岁女性患者,她左眼(LE)突然无痛性视力下降和中央暗点。她是一名吸烟者,并已服用复方口服避孕药(COC)1 年。入院时,LE 的最佳矫正视力(BCVA)为 1.5/50。后段检查显示视盘水肿伴火焰状视网膜出血,视网膜静脉轻度扭曲扩张。此外,还观察到视乳头及黄斑周围视网膜水肿、后极部出血灶和 Roth 斑、以及上方乳斑束苍白。眼底荧光血管造影(FFA)证实 LE 的睫状视网膜动脉对比剂延迟通过。临床表现提示左侧中央视网膜静脉阻塞(CRVO)合并睫状视网膜动脉阻塞(CLRAO)。除同型半胱氨酸(Hcy)水平正常外,所有实验室和影像学检查均正常,存在亚甲基四氢叶酸还原酶(MTHFR)基因纯合突变(A1298C 基因型)。低分子肝素(LMWH)治疗。视网膜病变及 BCVA 改善,但中央暗点仍存在。aPTT = 活化部分凝血活酶时间,BCVA = 最佳矫正视力,CBC = 全血细胞计数,CLRAO = 睫状视网膜动脉阻塞,COC = 复方口服避孕药,CRA = 中央视网膜动脉,CRP = 血清 C 反应蛋白,CRVO = 中央视网膜静脉阻塞,CT = 计算机断层扫描,CTA = 计算机断层血管造影,ECG = 心电图,ESR = 红细胞沉降率,FERG = 闪光视网膜电图,FFA = 眼底荧光血管造影,GCA = 神经节细胞分析,GCL = 神经节细胞层,Hcy = 同型半胱氨酸,ICGA = 吲哚青绿血管造影,INR = 国际标准化比值,IOP = 眼内压,IPL = 内丛状层,LE = 左眼,LMWH = 低分子肝素,mfERG = 多焦视网膜电图,MTHFR = 亚甲基四氢叶酸还原酶,OCT = 光学相干断层扫描,RE = 右眼,VF = 视野。

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Meta-analysis of the relationship between methylenetetrahydrofolate reductase C677T and A1298C polymorphism and venous thromboembolism in the Caucasian and Asian.亚甲基四氢叶酸还原酶 C677T 和 A1298C 多态性与白种人和亚洲人静脉血栓栓塞关系的荟萃分析
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