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Are Generalized Reduced Cerebrospinal Fluid Dynamics and Optic Nerve Sheath Compartmentation Sequential Steps in the Pathogenesis of Normal-Tension Glaucoma? [Response to Letter]. 正常眼压型青光眼发病的全身性脑脊液动力学降低和视神经鞘区隔是否依次发生?[回复信件]。
IF 4.4 Q1 OPHTHALMOLOGY Pub Date : 2021-05-25 eCollection Date: 2021-01-01 DOI: 10.2147/EB.S319543
Hanspeter E Killer, Achmed Pircher
1Department of Biomedicine, University Hospital Basel & University Basel, Basel, Switzerland; 2Department of Neuroscience/Ophthalmology, Uppsala University, Uppsala, Sweden; 3Department of Ophthalmology, University Hospital Basel & University Basel, Basel, Switzerland Dear editor We appreciate the thoughtful considerations of Peter Wostyn concerning our paper Lipocalin-type prostaglandin D synthase concentration gradients in the cerebrospinal fluid in normal-tension glaucoma patients with optic nerve sheath compartmentation. We are aware of his many creative contributions to the field of glaucoma and neurodegeneration. We fully agree that impaired cerebrospinal fluid (CSF) dynamics may play a crucial role in normal-tension glaucoma as well as in the pathophysiology of other neurodegenerative diseases, such as Alzheimer ́s and Parkinson ́s disease. Elevated Lipocalin-type prostaglandin D-synthase (L-PGDS) levels in the lumbar CSF in our cohort of normal-tension glaucoma patients compared to the concentration measured in healthy controls in other studies might indeed indicate generalized dysfunctional CSF dynamics in patients with normal-tension glaucoma. CSF and its content are distributed between the extracranial and the intercranial CSF spaces, eg, subarachnoid spaces, cisterns and ventricles. In order for CSF to perform its multiple functions, it also needs to be distributed within the parenchyma of the brain and the optic nerve itself. It therefore would be of great interest to know more about the concentration of proteins, such as L-PGDS, alpha synuclein and abetalipoprotein not only in the CSF surrounding the brain, but in the brain parenchyma (interstitial fluid) as well. The mechanism by which it is transported within parenchyma is still shrouded in mystery and should be subject of future studies.
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引用次数: 0
Prevalence of Retinal Vein Occlusions and Estimated Cerebrospinal Fluid Pressure: The Kailuan Eye Study. 视网膜静脉阻塞的患病率和估计脑脊液压:开滦眼研究。
IF 4.4 Q1 OPHTHALMOLOGY Pub Date : 2021-05-21 eCollection Date: 2021-01-01 DOI: 10.2147/EB.S290107
Qian Wang, Jingyan Yang, Jost B Jonas, Xuehui Shi, Shouling Wu, Shuohua Chen, Yanni Yan, Wenjia Zhou, Li Dong, Wenbin Wei, Ya Xing Wang

Purpose: To investigate the prevalence of retinal vein occlusions (RVOs) and associated factors in a Chinese population.

Patients and methods: The cross-sectional community-based Kailuan Eye Study included individuals who participated in the Kailuan Study. RVOs were diagnosed on the fundus photographs. Estimated cerebrospinal fluid pressure (eCSFP) was calculated as "eCSFP=0.44*Body Mass Index+0.16*Diastolic Blood Pressure-0.18*Age".

Results: The study included 12,499 participants with a mean age of 52.9±13.1 years. The overall prevalence of RVO was 120/12,499 or 0.96%, with branch RVOs observed in 116/12,499 individuals and central RVOs in 4/12,499 individuals. RVOs started at the optic disc in 19 participants (15.8% of all RVOs), and in 101 (84.2%) individuals arterio-venous crossings outside the optic disc. In multivariable analysis, a higher RVO prevalence was associated with older age (P<0.001), higher eCSFP (P<0.001), and higher fasting serum glucose concentration (P<0.001). Differentiating between RVOs at arterio-venous crossings and RVOs at the optic disc revealed that the prevalence of both RVO types was associated with higher eCSFP (P<0.001 and P=0.004, respectively) after adjusting for age and fasting serum glucose concentration.

Conclusion: In this adult Chinese population recruited on a community basis, the prevalence of any RVO (mean: 0.96) was associated with older age, higher eCSFP and higher fasting serum glucose concentration. Higher eCSFP may play an etiologic role in RVOs.

目的:调查中国人群视网膜静脉阻塞(RVOs)的患病率及其相关因素。患者和方法:以社区为基础的横断面开滦眼科研究纳入了参加开滦研究的个体。眼底照片诊断RVOs。估计脑脊液压(eCSFP)计算为“eCSFP=0.44*体重指数+0.16*舒张压0.18*年龄”。结果:研究纳入12499名参与者,平均年龄52.9±13.1岁。总体RVO患病率为120/ 12499(0.96%),其中分支RVO发生率为116/ 12499,中心RVO发生率为4/ 12499。19名参与者(占所有RVOs的15.8%)的RVOs开始于视盘,101名(84.2%)的人在视盘外的动静脉交叉。在多变量分析中,在调整年龄和空腹血糖浓度后,较高的RVO患病率与年龄有关(PPPPP分别=0.004)。结论:在社区基础上招募的中国成年人群中,任何RVO的患病率(平均:0.96)与年龄较大、eCSFP较高和空腹血糖浓度较高相关。较高的eCSFP可能在RVOs中起病因学作用。
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引用次数: 1
Retinal Damage in Amyotrophic Lateral Sclerosis: Underlying Mechanisms. 肌萎缩侧索硬化视网膜损伤:潜在机制。
IF 4.4 Q1 OPHTHALMOLOGY Pub Date : 2021-05-12 eCollection Date: 2021-01-01 DOI: 10.2147/EB.S299423
Vladislav O Soldatov, Michail S Kukharsky, Andrey E Belykh, Andrey M Sobolev, Alexey V Deykin

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease resulting in a gradual loss of motor neuron function. Although ophthalmic complaints are not presently considered a classic symptom of ALS, retinal changes such as thinning, axonal degeneration and inclusion bodies have been found in many patients. Retinal abnormalities observed in postmortem human tissues and animal models are similar to spinal cord changes in ALS. These findings are not dramatically unexpected because retina shares an ontogenetic relationship with the brain, and many genes are associated both with neurodegeneration and retinal diseases. Experimental studies have demonstrated that ALS affects many "vulnerable points" of the retina. Aggregate deposition, impaired nuclear protein import, endoplasmic reticulum stress, glutamate excitotoxicity, vascular regression, and mitochondrial dysfunction are factors suspected as being the main cause of motor neuron damage in ALS. Herein, we show that all of these pathways can affect retinal cells in the same way as motor neurons. Furthermore, we suppose that understanding the patterns of neuro-ophthalmic interaction in ALS can help in the diagnosis and treatment of this disease.

肌萎缩侧索硬化症(ALS)是一种致命的神经退行性疾病,导致运动神经元功能逐渐丧失。虽然眼科症状目前不被认为是ALS的典型症状,但在许多患者中发现了视网膜病变,如变薄、轴突变性和包涵体。在死后的人体组织和动物模型中观察到的视网膜异常与ALS的脊髓变化相似。这些发现并不出人意料,因为视网膜与大脑有共同的个体发生关系,许多基因与神经变性和视网膜疾病都有关。实验研究表明,ALS会影响视网膜的许多“脆弱点”。聚体沉积、核蛋白输入受损、内质网应激、谷氨酸兴奋毒性、血管退化和线粒体功能障碍被认为是ALS运动神经元损伤的主要原因。在这里,我们展示了所有这些通路都可以像运动神经元一样影响视网膜细胞。此外,我们认为了解肌萎缩侧索硬化症中神经-眼相互作用的模式有助于该病的诊断和治疗。
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引用次数: 11
Are Generalized Reduced Cerebrospinal Fluid Dynamics and Optic Nerve Sheath Compartmentation Sequential Steps in the Pathogenesis of Normal-Tension Glaucoma? [Letter]. 正常眼压型青光眼发病的全身性脑脊液动力学降低和视神经鞘区隔是否依次发生?(信)。
IF 4.4 Q1 OPHTHALMOLOGY Pub Date : 2021-05-11 eCollection Date: 2021-01-01 DOI: 10.2147/EB.S317786
Peter Wostyn
higher
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引用次数: 0
Portable Diagnostic System for Age-Related Macular Degeneration Screening Using Visual Evoked Potentials. 使用视觉诱发电位筛查老年性黄斑变性的便携式诊断系统。
IF 4.4 Q1 OPHTHALMOLOGY Pub Date : 2021-04-29 eCollection Date: 2021-01-01 DOI: 10.2147/EB.S295745
Craig Versek, S Mohammad Ali Banijamali, Peter Bex, Kameran Lashkari, Sagar Kamarthi, Srinivas Sridhar

Background: Delayed Dark-Adapted vision Recovery (DAR) is a biomarker for Age-related Macular Degeneration (AMD), however its measurement is burdensome for patients and examiners.

Methods: In this study, we developed a portable, wireless and user-friendly system that employs a headset with a smartphone to deliver controlled photo-bleach and monocular pattern reversal stimuli, while using custom electroencephalography (EEG) electrodes and electronics in order to measure Dark-Adapted Visual Evoked Potentials (DAVEP) objectively and separately at the peripheral and central visual field. This is achieved in one comfortable 20-minute session, without requiring subject reporting. DAVEP responses post photo-bleach for up to 15 minutes were measured concurrently from both eyes in 12 AMD-patients, 1 degenerative myopia patient, and 8 controls who had no diagnosed macular vision loss.

Results: Robust positive polarity DAVEP responses were observed at 200-500 ms from stimulus onset to scotopic stimuli that have been seldom reported and analyzed previously. The amplitude recovery of the DAVEP response was significantly delayed in AMD patients as compared to controls. We developed DAVEP1 scores, a simple metric for DAR, which classified 90% of subject eyes correctly, indicating the presence of AMD in at least one eye of all pre-confirmed subjects with this diagnosis.

Conclusion: We developed a user-friendly, portable VEP system and DAVEP1 metric, which show a high potential to identify DAR-deficits in AMD-patients. This novel technology could aid in early diagnosis of AMD.

背景:延迟黑暗适应视力恢复(DAR)是年龄相关性黄斑变性(AMD)的生物标志物,但其测量对患者和检查人员来说是一种负担。方法:在本研究中,我们开发了一种便携式、无线和用户友好的系统,该系统使用带有智能手机的耳机来提供受控的光漂白和单眼模式反转刺激,同时使用定制脑电图(EEG)电极和电子设备来客观地分别测量外围和中央视野的暗适应视觉诱发电位(DAVEP)。这是在一个舒适的20分钟会议中实现的,不需要受试者报告。12名amd患者、1名退行性近视患者和8名未诊断为黄斑视力丧失的对照患者,在光漂白15分钟后同时测量双眼DAVEP反应。结果:从刺激开始到暗刺激开始的200-500 ms,观察到强烈的正极性DAVEP反应,这在以前很少报道和分析。与对照组相比,AMD患者DAVEP反应的振幅恢复明显延迟。我们开发了DAVEP1评分,这是DAR的一个简单指标,它正确地分类了90%的受试者眼睛,表明所有预先确诊的受试者中至少有一只眼睛存在AMD。结论:我们开发了一种用户友好的便携式VEP系统和DAVEP1指标,在识别amd患者的dar缺陷方面具有很高的潜力。这项新技术有助于AMD的早期诊断。
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引用次数: 2
Monocular and Binocular Visual Function Deficits in Amblyopic Patients with and without Fusion Maldevelopment Nystagmus. 伴有或不伴有融合性发育不良性眼震的弱视患者的单眼和双眼视觉功能障碍。
IF 3.1 Q1 OPHTHALMOLOGY Pub Date : 2021-04-28 eCollection Date: 2021-01-01 DOI: 10.2147/EB.S300454
Jordan Murray, Kiran Garg, Fatema Ghasia

Purpose: The aim of the study is to examine the association between amblyopia type and the presence of nystagmus on binocular and monocular functions of the fellow (FE) and amblyopic eye (AE).

Methods: We recruited 19 controls and 44 amblyopes (anisometropes=13, strabismic=10, mixed=21). We measured visual, grating, and vernier acuities and high/low spatial frequency (SF) contrast sensitivities in each eye using a staircase method. Stereoacuity was measured with the Titmus fly test. We recorded fixation eye movements (FEM) using high-resolution video-oculography. Subjects were classified as having either no nystagmus (n=18), fusion maldevelopment nystagmus syndrome (FMNS) (n=12), or nystagmus without any structural anomalies that does not meet the criteria for FMNS or infantile nystagmus (n=14).

Results: Analysis of visual function by clinical amblyopia type showed that patients with strabismus/mixed amblyopia (F (2,54)=9.5, p<0.001) were more likely to have poor stereopsis while controlling for AE grating acuity deficit. The FE of patients with anisometropia had greater contrast sensitivity deficits at low (F (2,43)=4.4, p=0.018) and high SF (F (2,42)=10.1, p<0.001). Analysis of visual function by FEM characteristics (low SF: (F (3,43)=4.3, p=0.010) and high SF: (F (3,42)=7.1, p=0.001) showed that the FE of patients with FMNS had worse low and high SF contrast sensitivities, whereas those without FMNS had greater contrast sensitivity deficits only at high SF compared to controls. Patients with FMNS (F (3,54) = 12.9, p<0.001) were more likely to have poor stereopsis while controlling for AE grating acuity deficit compared to patients without FMNS. All amblyopic patients had worse high SF contrast sensitivity of the AE irrespective of type or FEM characteristics (Type = F (2,43)=8.8, p=0.001; FEM characteristics= F (3,43)=5.1, p=0.004).

Conclusion: The presence of FMNS in patients with strabismic/mixed amblyopia is associated with poor/absent stereopsis. FE deficits vary across amblyopia type. Like FEM abnormalities, visual function deficits are seen in the FE of patients with and without nystagmus.

目的:本研究旨在探讨弱视类型与眼球震颤对同视眼(FE)和弱视眼(AE)的双眼功能和单眼功能的影响:我们招募了19名对照组患者和44名弱视患者(异视=13,斜视=10,混合视=21)。我们采用阶梯法测量了每只眼睛的视力、光栅和游标视力以及高/低空间频率(SF)对比敏感度。立体视敏度通过 Titmus 苍蝇试验进行测量。我们使用高分辨率视频眼动仪记录固定眼球运动(FEM)。受试者被分为无眼球震颤(18 人)、融合发育不良性眼球震颤综合征(FMNS)(12 人)或无任何结构异常且不符合 FMNS 或婴儿眼球震颤标准的眼球震颤(14 人):结果:根据临床弱视类型对视觉功能进行的分析表明,斜视/混合性弱视患者(F (2,54)=9.5, pConclusion.)存在FMNS:斜视/混合性弱视患者出现 FMNS 与立体视不良/无立体视有关。不同弱视类型的 FE 缺陷各不相同。与眼球震颤异常一样,有眼球震颤和无眼球震颤患者的视功能也存在缺陷。
{"title":"Monocular and Binocular Visual Function Deficits in Amblyopic Patients with and without Fusion Maldevelopment Nystagmus.","authors":"Jordan Murray, Kiran Garg, Fatema Ghasia","doi":"10.2147/EB.S300454","DOIUrl":"10.2147/EB.S300454","url":null,"abstract":"<p><strong>Purpose: </strong>The aim of the study is to examine the association between amblyopia type and the presence of nystagmus on binocular and monocular functions of the fellow (FE) and amblyopic eye (AE).</p><p><strong>Methods: </strong>We recruited 19 controls and 44 amblyopes (anisometropes=13, strabismic=10, mixed=21). We measured visual, grating, and vernier acuities and high/low spatial frequency (SF) contrast sensitivities in each eye using a staircase method. Stereoacuity was measured with the Titmus fly test. We recorded fixation eye movements (FEM) using high-resolution video-oculography. Subjects were classified as having either no nystagmus (n=18), fusion maldevelopment nystagmus syndrome (FMNS) (n=12), or nystagmus without any structural anomalies that does not meet the criteria for FMNS or infantile nystagmus (n=14).</p><p><strong>Results: </strong>Analysis of visual function by clinical amblyopia type showed that patients with strabismus/mixed amblyopia (F (2,54)=9.5, p<0.001) were more likely to have poor stereopsis while controlling for AE grating acuity deficit. The FE of patients with anisometropia had greater contrast sensitivity deficits at low (F (2,43)=4.4, p=0.018) and high SF (F (2,42)=10.1, p<0.001). Analysis of visual function by FEM characteristics (low SF: (F (3,43)=4.3, p=0.010) and high SF: (F (3,42)=7.1, p=0.001) showed that the FE of patients with FMNS had worse low and high SF contrast sensitivities, whereas those without FMNS had greater contrast sensitivity deficits only at high SF compared to controls. Patients with FMNS (F (3,54) = 12.9, p<0.001) were more likely to have poor stereopsis while controlling for AE grating acuity deficit compared to patients without FMNS. All amblyopic patients had worse high SF contrast sensitivity of the AE irrespective of type or FEM characteristics (Type = F (2,43)=8.8, p=0.001; FEM characteristics= F (3,43)=5.1, p=0.004).</p><p><strong>Conclusion: </strong>The presence of FMNS in patients with strabismic/mixed amblyopia is associated with poor/absent stereopsis. FE deficits vary across amblyopia type. Like FEM abnormalities, visual function deficits are seen in the FE of patients with and without nystagmus.</p>","PeriodicalId":51844,"journal":{"name":"Eye and Brain","volume":"13 ","pages":"99-109"},"PeriodicalIF":3.1,"publicationDate":"2021-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/49/81/eb-13-99.PMC8089081.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38963517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Artifactual Visual Field Defects Identified on Technically "Reliable" Visual Field Studies in a Neuro-Ophthalmology Practice. 在神经眼科实践中,在技术上“可靠”的视野研究中确定的人工视野缺陷。
IF 4.4 Q1 OPHTHALMOLOGY Pub Date : 2021-04-14 eCollection Date: 2021-01-01 DOI: 10.2147/EB.S274523
Pablo Galarza, Elhanan Parnasa, Noah Guttmann, Joshua M Kruger

Purpose: To assess the reliability of automated visual field studies with neurological abnormalities and normal reliability indices that were inconsistent with the remainder of the neuro-ophthalmic assessment.

Methods: Retrospective observational study from the clinical practice of a neuro-ophthalmologist at a tertiary referral center.

Results: From 2230 patient charts, ten cases were identified that met the inclusion criteria. In eight of the cases repeat visual field testing had no reproducible abnormality. Four of these cases were concerning for a bitemporal or homonymous hemianopia. None of the patients, including the two cases with a reproducible defect, developed any convincing manifestations of an organic disease related to the visual field defect.

Conclusion: Our findings suggest that even marked neurological abnormalities on reliable automated visual field tests can be false. When the remainder of the neuro-ophthalmic evaluation is inconsistent with the test result, we recommend that clinicians attempt to immediately repeat the visual field study.

目的:评估与其他神经-眼科评估不一致的神经异常和正常可靠性指标的自动视野研究的可靠性。方法:回顾性观察研究从临床实践神经眼科医生在三级转诊中心。结果:从2230例患者的病历中,筛选出10例符合纳入标准。其中8例重复视野检查无可重复性异常。其中4例与双颞或同质性偏视有关。所有患者,包括2例可再生缺陷患者,均未表现出与视野缺陷相关的器质性疾病的任何令人信服的表现。结论:我们的研究结果表明,即使在可靠的自动视野测试中,明显的神经异常也可能是错误的。当其余的神经眼科评估与测试结果不一致时,我们建议临床医生尝试立即重复视野研究。
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引用次数: 0
Lipocalin-type Prostaglandin D Synthase Concentration Gradients in the Cerebrospinal Fluid in Normal-tension Glaucoma Patients with Optic Nerve Sheath Compartmentation. 视神经鞘区隔性青光眼患者脑脊液中脂钙素型前列腺素D合成酶的浓度梯度。
IF 4.4 Q1 OPHTHALMOLOGY Pub Date : 2021-04-14 eCollection Date: 2021-01-01 DOI: 10.2147/EB.S297274
Achmed Pircher, Albert Neutzner, Margherita Montali, Andreas Huber, Hendrik P N Scholl, Jatta Berberat, Luca Remonda, Hanspeter E Killer

Objective: To report on the lipocalin-type prostaglandin D synthase (L-PGDS) concentrations in the cerebrospinal fluid (CSF) of the perioptic and lumbar subarachnoid space (SAS) in patients with radiologically proven optic nerve (ON) sheath compartmentation presenting as normal-tension glaucoma (NTG).

Methods: Retrospective biochemical analysis of CSF in thirteen patients with ON sheath compartmentation presenting as NTG (four females, mean age 70±8 years). CSF was sampled from the SAS of the ON during ON sheath fenestration for ON sheath compartmentation and from the lumbar SAS at the time of lumbar puncture. Nephelometry was used for the quantification of L-PGDS and albumin concentration. Albumin was measured in order to assess the amount of contamination with serum in the CSF samples taken from the ON SAS. Main outcome measures were L-PGDS concentrations in the CSF of the perioptic and lumbar SAS.

Results: Mean L-PGDS concentration was 24±8 mg/L in the lumbar SAS compared to 33±27 mg/L without correction of serum contamination and 45±39 mg/L after correction of serum contamination in the perioptic SAS. The difference between the lumbar and the perioptic SAS was statistically significant (P=0.0047 without correction of serum contamination, P=0.0002 with correction of serum contamination; Mann-Witney U-test).

Conclusion: This study demonstrates a concentration gradient of L-PGDS levels within the CSF with a statistically significant higher concentration in the compartmentalized perioptic SAS compared to that in the lumbar SAS. Biochemical changes in the perioptic SAS might be involved in the pathophysiology in NTG patients with ON sheath compartmentation.

目的:报道视神经鞘区隔(on)表现为正常张力青光眼(NTG)的患者视周和腰椎蛛网膜下腔(SAS)脑脊液(CSF)中脂钙素型前列腺素D合成酶(L-PGDS)的浓度。方法:回顾性分析13例表现为NTG的ON鞘区隔患者脑脊液的生化分析(女性4例,平均年龄70±8岁)。脑脊液在ON鞘开窗进行ON鞘隔室时从ON的SAS采集,在腰椎穿刺时从腰椎SAS采集。用浊度法定量L-PGDS和白蛋白浓度。测定白蛋白以评估从ON SAS采集的脑脊液样本中被血清污染的程度。主要观察指标是视周和腰椎SAS脑脊液中L-PGDS的浓度。结果:腰椎SAS的平均L- pgds浓度为24±8 mg/L,而未校正血清污染的腰椎SAS的平均L- pgds浓度为33±27 mg/L,校正血清污染后的视周SAS的平均L- pgds浓度为45±39 mg/L。腰椎与视周SAS差异有统计学意义(未校正血清污染P=0.0047,校正血清污染P=0.0002;Mann-Witney紫外线测试)。结论:本研究证实了脑脊液中L-PGDS水平的浓度梯度,与腰椎SAS相比,区隔性视周SAS的浓度具有统计学意义。视周SAS的生化变化可能参与了NTG患者ON鞘区隔的病理生理。
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引用次数: 8
Electrophysiological Study of Visual Pathways in Nevoid Basal Cell Carcinoma Syndrome Patients. 基底细胞瘤综合征患者视通路的电生理研究。
IF 4.4 Q1 OPHTHALMOLOGY Pub Date : 2021-03-29 eCollection Date: 2021-01-01 DOI: 10.2147/EB.S281135
Antonietta Moramarco, Ludovico Alisi, Alessandro Lambiase, Sandra Giustini, Luca Lucchino, Emanuele Miraglia, Vincenzo Roberti, Marcella Nebbioso

Introduction: Gorlin-Goltz syndrome (GGS) also known as nevoid basal cell carcinoma syndrome (NBCCS) is a complex rare genetic disorder characterized by a wide range of clinical and radiological manifestations. Ophthalmological alterations have always been reported, but no study on the eventual pattern visual evoked potentials (pVEPs) abnormalities has yet been published.

Purpose: The purpose of the study was to evaluate the functionality of the optic pathways in a group of NBCCS patients through pattern reversal VEPs, after a thorough exclusion of subjects with preexisting ocular and optic pathways pathologies.

Methods: Nineteen NBCCS patients (31 eyes) and 20 healthy controls (40 eyes) have been recruited for this study. All subjects underwent an evaluation of the functionality of the optic pathways through pVEPs with small (120'), medium (60'), and large (15') check size stimulation.

Results: NBCCS patients showed a statistically significant alteration in the transmission of the macular pathway function when compared to controls. PVEPs analysis confirmed a reduced amplitude and an increased latency of the P100 component, suggesting an involvement of the visual pathway even in the absence of ocular clinical manifestations.

Conclusion: Visual pathways may have been affected both by a subclinical myelination deficit, determined directly by the genetic alteration, as well as by neurological abnormalities typical of this syndrome. Further studies are warranted.

简介:Gorlin-Goltz综合征(GGS)也被称为瘤状基底细胞癌综合征(NBCCS),是一种复杂的罕见遗传疾病,具有广泛的临床和放射学表现。眼科的改变一直有报道,但尚未有关于最终模式视觉诱发电位(pVEPs)异常的研究发表。目的:本研究的目的是通过模式逆转VEPs评估一组NBCCS患者视神经通路的功能,在彻底排除了先前存在的眼部和视神经通路病变的受试者后。方法:本研究招募19例NBCCS患者(31眼)和20例健康对照(40眼)。所有受试者通过小(120')、中(60')和大(15')检查尺寸刺激的pvep对视神经通路的功能进行了评估。结果:与对照组相比,NBCCS患者黄斑通路功能的传递有统计学意义的改变。PVEPs分析证实P100成分的振幅降低和潜伏期增加,表明即使在没有眼部临床表现的情况下也可能涉及视觉通路。结论:视觉通路可能受到亚临床髓鞘形成缺陷的影响,直接由遗传改变决定,以及该综合征典型的神经异常。进一步的研究是必要的。
{"title":"Electrophysiological Study of Visual Pathways in Nevoid Basal Cell Carcinoma Syndrome Patients.","authors":"Antonietta Moramarco,&nbsp;Ludovico Alisi,&nbsp;Alessandro Lambiase,&nbsp;Sandra Giustini,&nbsp;Luca Lucchino,&nbsp;Emanuele Miraglia,&nbsp;Vincenzo Roberti,&nbsp;Marcella Nebbioso","doi":"10.2147/EB.S281135","DOIUrl":"https://doi.org/10.2147/EB.S281135","url":null,"abstract":"<p><strong>Introduction: </strong>Gorlin-Goltz syndrome (GGS) also known as nevoid basal cell carcinoma syndrome (NBCCS) is a complex rare genetic disorder characterized by a wide range of clinical and radiological manifestations. Ophthalmological alterations have always been reported, but no study on the eventual pattern visual evoked potentials (pVEPs) abnormalities has yet been published.</p><p><strong>Purpose: </strong>The purpose of the study was to evaluate the functionality of the optic pathways in a group of NBCCS patients through pattern reversal VEPs, after a thorough exclusion of subjects with preexisting ocular and optic pathways pathologies.</p><p><strong>Methods: </strong>Nineteen NBCCS patients (31 eyes) and 20 healthy controls (40 eyes) have been recruited for this study. All subjects underwent an evaluation of the functionality of the optic pathways through pVEPs with small (120'), medium (60'), and large (15') check size stimulation.</p><p><strong>Results: </strong>NBCCS patients showed a statistically significant alteration in the transmission of the macular pathway function when compared to controls. PVEPs analysis confirmed a reduced amplitude and an increased latency of the P100 component, suggesting an involvement of the visual pathway even in the absence of ocular clinical manifestations.</p><p><strong>Conclusion: </strong>Visual pathways may have been affected both by a subclinical myelination deficit, determined directly by the genetic alteration, as well as by neurological abnormalities typical of this syndrome. Further studies are warranted.</p>","PeriodicalId":51844,"journal":{"name":"Eye and Brain","volume":"13 ","pages":"71-78"},"PeriodicalIF":4.4,"publicationDate":"2021-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/4a/fa/eb-13-71.PMC8018356.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25565806","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluation of Retinal Layer Thickness Parameters as Biomarkers in a Real-World Multiple Sclerosis Cohort. 评价视网膜层厚度参数作为生物标志物在现实世界多发性硬化症队列。
IF 4.4 Q1 OPHTHALMOLOGY Pub Date : 2021-03-12 eCollection Date: 2021-01-01 DOI: 10.2147/EB.S295610
Natascha Schurz, Lydia Sariaslani, Patrick Altmann, Fritz Leutmezer, Christoph Mitsch, Berthold Pemp, Paulus Rommer, Tobias Zrzavy, Thomas Berger, Gabriel Bsteh

Purpose: Retinal layer thickness parameters measured by optical coherence tomography (OCT) are emerging biomarkers of neuroaxonal degeneration and inflammation in multiple sclerosis (MS). We aimed to evaluate the value of retinal layer thickness for prediction of disability worsening and relapse in a real-world MS cohort.

Patients and methods: For this longitudinal observational study, we included MS patients with spectral-domain OCT scans available and ≥1 year of clinical follow-up. The value of peripapillary retinal nerve fiber layer (pRNFL), macular ganglion-cell-and-inner-plexiform-layer (GCIPL) and inner nuclear layer (INL) thickness for prediction of disability worsening and relapse during the observation period was tested by multivariate models.

Results: We analyzed 60 MS patients during a mean observation period of 2.9 years (SD 1.8). Lower baseline thickness of GCIPL (cut-off <77µm; HR 4.1, p=0.001) and pRNFL (cut-off ≤88µm; HR 3.1, p=0.019) were associated with an increased risk of disability worsening. Longitudinally, mean thinning rates were -0.8µm/year (SD 1.6) for GCIPL, -0.6µm/year (SD 3.5) for pRNFL. GCIPL thinning ≥1.0µm/year and pRNFL >1.5µm/year is associated with higher likelihood of disability worsening (HR 5.7, p=0.009 and HR 6.8, p=0.003, respectively). INL thickened in patients with relapse by a mean 0.9µm while thinning by 0.3µm in patients without relapse (p=0.04). In multivariate analyses, INL thickening was associated with an increased probability of relapse (OR 17.8, p=0.023).

Conclusion: Cross-sectional and longitudinal measurement of GCIPL and pRNFL thinning is reliable as a biomarker of disability worsening in a real-world setting. Change of INL thickness is a promising marker of relapse, i.e. inflammatory activity.

目的:通过光学相干断层扫描(OCT)测量视网膜层厚度参数是多发性硬化症(MS)神经轴突变性和炎症的新兴生物标志物。我们的目的是评估视网膜层厚度在现实世界MS队列中预测残疾恶化和复发的价值。患者和方法:在这项纵向观察性研究中,我们纳入了谱域OCT扫描可用且临床随访≥1年的MS患者。采用多变量模型检验观察期内乳头周围视网膜神经纤维层(pRNFL)、黄斑神经节细胞-内丛层(GCIPL)和内核层(INL)厚度对残疾恶化和复发的预测价值。结果:我们分析了60例MS患者,平均观察时间为2.9年(SD 1.8)。GCIPL较低的基线厚度(截止值为1.5 μ m/年)与残疾恶化的可能性较高相关(HR分别为5.7,p=0.009和HR 6.8, p=0.003)。复发患者的INL平均增厚0.9µm,而未复发患者的INL平均变薄0.3µm (p=0.04)。在多变量分析中,INL增厚与复发概率增加相关(OR 17.8, p=0.023)。结论:GCIPL和pRNFL变薄的横断面和纵向测量在现实世界中作为残疾恶化的生物标志物是可靠的。INL厚度的变化是一个很有希望的复发标志,即炎症活动。
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引用次数: 14
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Eye and Brain
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