retinopathy

视网膜病变
  • 文章类型: Case Reports
    Purtscher视网膜病是一种闭塞性微血管病变,在创伤中引起突然发作的视力丧失。观察到类似的视网膜外观是急性胰腺炎的罕见并发症,被确定为Purtscher样视网膜病变(PulR)。我们报告了一名15岁女孩的病例,该女孩被诊断患有急性慢性胰腺炎,她注意到左眼突然出现视力丧失,并发现视力显着下降。扩大的眼底镜检查显示病理性Purtscherflecken,多发性视网膜出血,棉绒斑点和黄斑水肿。PulR的临床诊断是在急性对慢性胰腺炎的背景下进行的。光学相干断层扫描用于支持诊断并监测对治疗的反应。考虑到可变的预后,没有基于证据的治疗方法,在接受玻璃体内类固醇治疗和治疗胰腺炎急性发作时,患者的视力有主观改善.对这种罕见疾病的了解和认识将使其能够早期发现并寻找更新的治疗方法。
    Purtscher\'s retinopathy is an occlusive micro-vasculopathy causing sudden onset visual loss in trauma. Similar retinal appearance is observed as a rare complication of acute pancreatitis which is identified as Purtscher-like retinopathy (PulR). We report the case of a 15-year-old girl diagnosed to have acute on chronic pancreatitis who noticed a sudden onset loss of vision in the left eye and was found to have significantly diminished visual acuity. A dilated fundoscopic examination demonstrated pathognomonic Purtscher flecken, multiple retinal haemorrhages, cotton wool spots and macular oedema. A clinical diagnosis of PulR was made in the setting of acute on chronic pancreatitis. Optical coherence tomography was used to support the diagnosis and to monitor response to therapy. Given the variable prognosis with no evidence-based therapies available, she had a subjective improvement in visual acuity with administration of intravitreal steroids and observation with management of the acute episode of pancreatitis. Knowledge and awareness of this rare condition will enable its early detection and the search for newer therapies.
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  • 文章类型: Case Reports
    (1)背景与目的:青年型糖尿病(MODY)是一组由胰岛素分泌相关基因缺陷引起的糖尿病。MODY1,MODY2和MODY3是最常见的,约占所有病例的80%。其他类型相对罕见。这项研究描述了临床,分析,MODY10和糖尿病肾病患者的遗传特征,视网膜病变,和功能性性腺功能减退的诊断。(2)材料和方法:分析了一例临床病例,并使用全外显子组生成测序(WES)检测了与单基因变异相关的突变。(3)结果:17岁男性患者,8岁时被诊断为明显的1型糖尿病患者开始接受胰岛素治疗。他因血糖代偿失调来到急诊室,面部,下肢水肿。在他的评估中,他有接近肾病范围的蛋白尿2902毫克/24小时,肾脏超声显示轻度肾盂扩张,增生性糖尿病视网膜病变,并被诊断为功能性低促性腺激素性腺功能减退。这些合并症通过适当的血糖控制得到改善。WES显示错义变体c.96G>A(p。Gly32Ser)在INS基因中,根据Clinvar对应的MODY10。这是他父母没有报道的“从头”变种。(4)结论:单基因糖尿病(MD)很少见,MODY10属于较不常见的类型。即使没有糖尿病家族史,自身免疫阴性的1型表型患者也应怀疑MODY。据我们所知,我们在这里介绍了拉丁美洲报道的首例具有MODY10表型特征的患者。
    (1) Background and objectives: Maturity-onset diabetes of the young (MODY) is a group of diabetes caused by gene defects related to insulin secretion. MODY1, MODY2, and MODY3 are the most common and account for approximately 80% of all cases. Other types are relatively rare. This study describes the clinical, analytical, and genetic characteristics of a patient with MODY10, and diabetic nephropathy, retinopathy, and functional hypogonadism diagnosis. (2) Materials and methods: A clinical case was analyzed and whole exome generation sequencing (WES) was used to detect mutations related to a monogenic variant. (3) Results: A seventeen-year-old male patient, who was diagnosed with apparent type 1 diabetes at the age of eight was started with insulin therapy. He came to the emergency room with glycemic decompensation, facial, and lower limb edema. During his evaluation, he had near-nephrotic range proteinuria of 2902 mg/24 h, a kidney ultrasound showing mild pyelocalyceal dilation, proliferative diabetic retinopathy, and was also diagnosed with functional hypogonadotropic hypogonadism. These comorbidities improved with adequate glycemic control. WES showed missense variant c.94G>A (p.Gly32Ser) in the INS gene, according to Clinvar corresponding to MODY10. It was a \"de novo\" variant not reported in his parents. (4) Conclusions: Monogenic diabetes (MD) is rare and MODY10 is among the less frequent types. MODY should be suspected in patients with type 1 phenotype with negative autoimmunity even in the absence of a family history of diabetes. To the best of our knowledge, we present here the first patient with these phenotypic traits of MODY10 reported in Latin America.
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  • 文章类型: Case Reports
    视神经炎被认为是免疫介导的,尽管导致脱髓鞘的特定抗原尚不确定。在症状发作时检测到系统性T细胞活化,发生在脑脊液(CSF)改变之前。视神经疾病是一种罕见的疾病,可以发生在一只或两只眼睛,尤其是那些没有确定的炎症或自身免疫性疾病。成人眼神经炎通常是单侧的,通常与多发性硬化症(MS)有关。一般来说,它开始于视力的快速丧失和眼球运动中的疼痛。它在一周内进展并达到最大缺乏。本文的目的是确定2019年冠状病毒病(COVID-19)与视神经炎之间的关系,并研究COVID-19消退阶段视神经炎的管理。对一名38岁的女性进行了案例研究,该女性抱怨右眼视力突然下降一周。她在COVID-19的逆转录酶-聚合酶链反应(RT-PCR)测试中检测为阳性,对此她进行了对症治疗,并开始服用抗逆转录病毒药物。该病例报告基于罕见的COVID-19并发症。已经提出该病毒具有表现出各种神经系统并发症的可能性。在我们的案例中,视神经炎主要发生在COVID-19感染后3周。我们的患者通过静脉注射甲基强的松龙,然后口服强的松治疗14天。所以,需要进一步的病例研究来支持上述由严重急性呼吸综合征冠状病毒2(SARS-CoV-2)引起的视神经炎的治疗方案.在COVID-19感染的消退阶段,单侧或双侧视神经炎可作为神经系统并发症发生。早期发现和使用类固醇治疗可以产生最佳的视觉结果。
    Optic neuritis is assumed to be immune-mediated, although the specific antigens that cause demyelination are uncertain. Systemic T-cell activation is detected at the onset of symptoms, which occurs before alterations in cerebrospinal fluid (CSF). The optic nerve disease is a rare disease and can occur in one or both eyes, especially in those with no established inflammatory or autoimmune illnesses. Adult ophthalmic neuritis is usually unilateral and is frequently associated with multiple sclerosis (MS). Generally, it starts as a rapid loss of vision and pain in eye movement. It progresses and achieves the maximal deficiency over a week. The objectives of this paper were to determine the association between coronavirus disease 2019 (COVID-19) and optic neuritis and to study the management of optic neuritis in the resolving phase of COVID-19. A case study was done on a 38-year-old female complaining of sudden diminution of vision in her right eye for one week. She tested positive on the reverse transcriptase-polymerase chain reaction (RT-PCR) test for COVID-19 for which she was managed symptomatically and was started on antiretrovirals. This case report is based on an infrequent COVID-19 complication. It has been proposed that this virus has the probability of manifesting various neurological complications. In our case, optic neuritis occurs mainly three weeks after COVID-19 infection. Our patient was managed by intravenous methylprednisolone injection followed by oral prednisone for 14 days. So, further case studies will be required to support the above treatment plan for optic neuritis caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Unilateral or bilateral optic neuritis can occur as a neurological complication in the resolving stage of COVID-19 infection. Early detection and treatment with steroids can result in the best visual outcome.
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  • 文章类型: Case Reports
    在所有年龄段,中度至重度高血压视网膜病变更可能与不受控制的血压相关。随着自然衰老,预计微血管会发生轻度变化,因此在40岁以下的患者中更令人担忧。随后基于血压测量和患者症状来确定风险评估。本文的目的是在临床病例的背景下,讨论有关高血压视网膜病变分级在系统性心血管疾病风险评估中的作用的最新观点。将总结临床医生的管理和转诊建议。任何患有严重高血压视网膜病变的患者;患有中度高血压视网膜病变的孕妇;年龄小于55岁且血压高于2级的患者;任何血压高于严重的患者;任何有胸痛症状的患者,头痛,呼吸困难,或头晕;以及任何有症状的视网膜斑块的患者。
    Moderate to severe hypertensive retinopathies are more likely to correlate with uncontrolled blood pressure in all ages. Mild microvascular changes are expected with natural aging and are therefore more concerning in patients younger than 40. Risk assessment is subsequently determined based on blood pressure measurements and patient symptoms. The goal of this paper is to discuss current opinions regarding the role of grading hypertensive retinopathy in the risk assessment of systemic cardiovascular disease in the context of a clinical case. Management and referral recommendations for clinicians will be summarized. Emergent referral for hospital-based care is indicated in any patient with severe hypertensive retinopathy; pregnant women with moderate hypertensive retinopathy; patients younger than 55 with blood pressure greater than Grade 2; any patient with blood pressure greater than grade Severe; any patient with symptoms of chest pain, headache, dyspnea, or dizziness; and any patient with a symptomatic retinal plaque.
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    文章类型: Case Reports
    我们报道了在波多黎各COVID-19大流行期间发现的首例先天性寨卡综合症。寨卡病毒(ZIKV)感染于2015年12月在波多黎各首次出现。这是一种垂直传播的黄病毒,从感染的母亲传播到胎儿,并具有广泛的临床表现,其中小头畸形是最令人担忧的。在波多黎各,2016年10月实施孕期常规ZIKV筛查.然而,随着时间的推移,这种做法变得不那么频繁了。然而,ZIKV的传播仍在继续,所以重要的是要确保在流行地区进行常规的ZIKV筛查,比如波多黎各。
    We report on the first case of congenital Zika syndrome to be identified during the COVID-19 pandemic in Puerto Rico. The Zika virus (ZIKV) infection was first seen in Puerto Rico in December 2015. It is a flavivirus with vertical transmission, spreading from infected mothers to their fetuses and having a broad spectrum of clinical manifestations, of which microcephaly is the most worrisome. In Puerto Rico, routine ZIKV screening during pregnancy was implemented in October 2016. However, this practice has become less frequent over time. Nevertheless, the transmission of ZIKV continues, so it is important to ensure routine ZIKV screening in endemic regions, such as Puerto Rico.
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  • 文章类型: Case Reports
    生物素酶缺乏症(BD)是一种遗传性常染色体隐性代谢紊乱。BD与视神经萎缩有关,眼部感染,和视网膜病变。BD最常见的眼科表现是视神经萎缩,可能会被误诊为多发性硬化症或视神经脊髓炎,尤其是晚发性BD病例。
    在本文中,我们报告了一个9岁男孩,视力逐渐丧失。眼科检查,脑部核磁共振,并对患者进行了几项实验室检查,如水通道蛋白-4IgG水平和生物素酶水平.
    检查发现双侧视神经萎缩和视力受损。患者的生物素水平为1.25U/min/ml(正常范围3-9U/min/ml),有利于BD。
    在这项研究中,我们报告了一名9岁的男孩,他的视力丧失被诊断为BD。我们还回顾了文献,以强调BD的眼科表现。眼科医生必须考虑患有无法解释的眼科投诉的儿童的BD,特别是当BD的其他特征体征(例如,发育迟缓,癫痫发作)存在。此外,BD患者应每年定期接受眼科检查,以检查是否有任何眼部受累迹象。
    UNASSIGNED: Biotinidase deficiency (BD) is an inherited autosomal recessive metabolic disorder. BD has been associated with optic nerve atrophy, eye infections, and retinopathy. The most prevalent ophthalmic manifestation of BD is optic atrophy, which might be misdiagnosed as multiple sclerosis or neuromyelitis optica, especially in late-onset BD cases.
    UNASSIGNED: In this article, we report a 9-year-old boy with gradual vision loss. Ophthalmologic examination, Brain MRI, and several laboratory tests such as Aquaporin-4 IgG level and biotinidase level were done on the patient.
    UNASSIGNED: Bilateral optic atrophy and impaired visual acuity were detected on examination. The patient had a biotin level of 1.25 U/min/ml (normal range 3-9 U/min/ml), favoring the BD.
    UNASSIGNED: In this study, we report a 9-year-old boy with vision loss diagnosed with BD. We also reviewed the literature to highlight the ophthalmic manifestations of BD. Ophthalmologists must consider BD in children with unexplained ophthalmologic complaints, especially when other characteristic signs of BD (e.g., developmental delay, seizure) are present. Also, patients with BD should undergo regular annual ophthalmologic examinations to be checked for any signs of eye involvement.
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  • 文章类型: Case Reports
    目的:报告3例利托那韦治疗HIV继发视网膜病变。方法:对包括眼科检查结果在内的患者记录进行回顾性审查。人口统计学和HIV临床特征,和黄斑病变的进展。该审查确定了3例接受抗逆转录病毒治疗的HIV病史患者,包括利托那韦,他们的双眼均已评估为双侧视力丧失。结果:每位患者的眼底检查均显示特征性黄斑萎缩,光学相干断层扫描显示相应的中央外视网膜萎缩。葡萄膜炎检查结果不显著。鉴于黄斑萎缩的特点,利托那韦使用的历史,没有眼内炎症,所有3例患者均被诊断为双侧利托那韦相关视网膜病变.每个病人的视力持续恶化,甚至在Ritonavir停止之后.结论:在有接触史的患者中,在视网膜病变的鉴别诊断中应考虑利托那韦的毒性。
    Purpose: To report 3 cases of retinopathy secondary to ritonavir use in the treatment of HIV. Methods: A retrospective review of patient records was performed for data including ophthalmic examination findings, demographic and HIV clinical characteristics, and progression of maculopathy disease. The review identified 3 patients with a history of HIV treated with antiretroviral therapy including ritonavir who had been evaluated for bilateral vision loss in both eyes. Results: A fundus examination of each patient revealed characteristic macular atrophy, and optical coherence tomography demonstrated corresponding central outer retinal atrophy. Uveitis workup results were unremarkable. Given the characteristics of macular atrophy, history of ritonavir use, and the absence of intraocular inflammation, all 3 patients were diagnosed with bilateral ritonavir-associated retinopathy. Each patients\' vision continued to deteriorate, even after the cessation of ritonavir. Conclusions: Ritonavir toxicity should be considered in the differential diagnosis of retinopathy among patients with an exposure history.
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  • 文章类型: Case Reports
    背景:努南综合征(NS)是一种相当常见的遗传疾病,表型高度可变。其特征包括遗传性心脏缺陷,特征性的面部特征,身材矮小,和轻微的运动技能迟钝。病例介绍:一名患有NS的16岁白人女孩报告视力下降,畏光,右眼疼痛(RE)。RE的初始最佳矫正视力(BCVA)为0.3。检查显示结膜和睫状体充血,角质沉淀物,并在前房爆发。此外,出血后的漂浮物,曲折的船只,RE中存在视网膜前膜。诊断为单侧前葡萄膜炎,在使用局部类固醇和睫状肌麻痹滴剂后,这种情况得到了解决。由于RE中存在视网膜毛细血管扩张和眼外渗出物(与Coats病(CD)2A期一致),进行激光治疗。患者仍在持续随访中,一年后,RE中的BCVA为0.7。结论:在这里,我们报告了临床特征,遗传发现,和患有NS的患者的视网膜成像结果。据我们所知,这是,到目前为止,关于NS与PTPN11突变与前葡萄膜炎和CD的相关性的第一份报告。
    Background: Noonan syndrome (NS) represents a fairly common genetic disorder with a highly variable phenotype. Its features include inherited heart defects, characteristic facial features, short stature, and mild retardation of motor skills. Case presentation: A 16-year-old Caucasian girl with NS reported visual deterioration, photophobia, and pain in the right eye (RE). The initial best-corrected visual acuity (BCVA) was 0.3 in the RE. An examination demonstrated conjunctival and ciliary body hyperemia, keratic precipitates, and flare in the anterior chamber. In addition, post-hemorrhagic floaters, tortuous vessels, and an epiretinal membrane in the RE were present. Diagnosis of unilateral anterior uveitis was made, and this resolved after the use of topical steroids and cycloplegic drops. Due to the presence of retinal telangiectasias and extraocular exudates (consistent with Coats\' disease (CD) stage 2A) in the RE, laser therapy was performed. The patient remains under constant follow-up, and after one year, the BCVA in the RE was 0.7. Conclusions: Here, we report the clinical characteristics, genetic findings, and retinal imaging results of a patient with NS. To our knowledge, this is, to date, the first report of an association of NS with a PTPN11 mutation with anterior uveitis and CD.
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  • 文章类型: Journal Article
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  • 文章类型: Journal Article
    目的:确定红细胞葡萄糖-6-磷酸脱氢酶(G6PD)活性是否与早产儿视网膜病变(ROP)相关。
    方法:本病例对照研究在3级新生儿病房进行。受试者是出生体重<2000g的出生男孩。“病例”是具有任何严重程度的ROP的连续受试者。“对照”是没有ROP的连续无关受试者。排除血液或交换输血的接受者。纳入60例(98例筛查中)和60例对照(93例筛查中)。评估作为候选风险因子的G6PD活性(定量分析)。
    结果:比较了60例患者和60例对照组[平均(SD)妊娠28.80(2.2)和30.60(2.2)周]。“病例”中位数较高(第一,第3四分位数)G6PD活性与“对照”[7.39(4.7,11.5)与6.28(4.2,8.8)U/gHb,p=0.084]。G6PD活性在需要治疗的ROP中最高[8.68(4.7,12.3)],其次是不需要治疗的ROP[6.91(4.4,11.0)],其次是对照组(plinear趋势=0.06)。妊娠,出生体重,氧气的持续时间,母乳喂养,单变量分析中与ROP相关的变量为临床脓毒症。在多变量逻辑回归中,G6PD活性[调整OR1.14(1.03,1.25),p=0.01]和妊娠[调整后OR0.74(0.56,0.97),p=0.03]独立预测的ROP。模型的C统计量为0.76(95%CI0.67,0.85)。
    结论:在校正混杂因素后,较高的G6PD活性与ROP独立相关。G6PD中每增加1U/gHb,ROP的几率就增加14%。ROP的极端形式与较高的G6PD活性水平相关。
    To determine whether red blood cell glucose-6-phosphate dehydrogenase (G6PD) activity is associated with retinopathy of prematurity (ROP).
    This case-control study was conducted in a Level-3 neonatal unit. Subjects were inborn boys with birth weight <2000 g. \"Cases\" were consecutive subjects with ROP of any severity. \"Controls\" were consecutive unrelated subjects without ROP. Recipients of blood or exchange transfusions were excluded. Sixty cases (out of 98 screened) and 60 controls (out of 93 screened) were enrolled. G6PD activity (quantitative assay) as the candidate risk factor was evaluated.
    Sixty cases with 60 controls [mean (SD) gestation 28.80 (2.2) and 30.60 (2.2) wk respectively] were compared. \"Cases\" had a higher median (1st, 3rd quartile) G6PD activity compared to \"controls\" [7.39 (4.7, 11.5) vs. 6.28 (4.2, 8.8) U/g Hb, p = 0.084]. G6PD activity was highest among ROP requiring treatment [8.68 (4.7, 12.3)] followed by ROP not requiring treatment [6.91 (4.4, 11.0)], followed by controls (plinear trend = 0.06). Gestation, birth weight, duration of oxygen, breastmilk feeding, and clinical sepsis were other variables associated with ROP on univariable analysis. On multivariable logistic regression, G6PD activity [Adjusted OR 1.14 (1.03, 1.25), p = 0.01] and gestation [Adjusted OR 0.74 (0.56, 0.97), p = 0.03] independently predicted ROP. C-statistic of the model was 0.76 (95% CI 0.67, 0.85).
    Higher G6PD activity was independently associated with ROP after adjusting for confounders. Each 1 U/g Hb increase in G6PD increased the odds of ROP by 14%. Severer forms of ROP were associated with higher levels of G6PD activity.
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