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Clinical Characteristics of Microcystic Macular Edema in Chronic Primary Angle-Closure Glaucoma and Primary Open-Angle Glaucoma Patients. 慢性原发性闭角型青光眼和原发性开角型青光眼患者微囊性黄斑水肿的临床特征。
IF 2.1 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-01-01 Epub Date: 2024-01-19 DOI: 10.1159/000535900
Hui Xiao, Yuan Liu, Ni Guo, Ling Jin, Zhenyu Wang, Shufen Lin, Yixiu Lin, Shaoyang Zheng, Yuheng Tan, Nachuan Luo, Xing Liu, Chengguo Zuo

Introduction: This study investigated the clinical characteristics of and risk factors for microcystic macular edema (MME) in patients with chronic primary angle-closure glaucoma (CPACG) and primary open-angle glaucoma (POAG).

Methods: This retrospective observational study included 1,588 eyes from 926 glaucoma inpatients and analyzed the patients' basic demographic information, visual field parameters, macular scans, and peripapillary retinal nerve fiber layer thickness.

Results: Our findings were that the incidence rate of MME was 3.97% (34/857) in CPACG and 5.88% (43/731) in POAG. MME was predominantly diagnosed at an advanced stage in CPACG (almost 100%) compared to POAG (93.02%). MME was most frequently involved in the inferior (83.12%) quadrant of the peri-macular region in both CPACG and POAG. Risk factors for MME occurrence in CPACG and POAG included lower visual field mean deviation (OR = 1.14, 95%: CI 1.05-1.24, p = 0.003; OR = 1.14, 95% CI: 1.06-1.21, p < 0.001) and younger age (OR = 0.92, 95% CI: 0.88-0.96, p < 0.001; OR = 0.96, 95% CI: 0.93-0.99, p = 0.003), while female sex (OR = 0.30, 95% CI: 0.11-0.84, p = 0.022) reduced the MME occurrence in POAG.

Conclusion: MME could develop in both CPACG and POAG patients, occurring earlier in POAG. The inferior peri-macular region is commonly affected. Younger age and poorer visual field are risk factors for MME in glaucoma patients.

导言:本研究调查了慢性原发性闭角型青光眼(CPACG)和原发性开角型青光眼(POAG)患者微囊性黄斑水肿(MME)的临床特征和风险因素:这项回顾性观察研究纳入了926名青光眼住院患者的1588只眼睛,分析了患者的基本人口学信息、视野参数、黄斑扫描和毛细血管周围视网膜神经纤维层厚度:我们的研究结果表明,CPACG 患者的 MME 发病率为 3.97%(34/857),POAG 患者的 MME 发病率为 5.88%(43/731)。与 POAG(93.08%)相比,MME 在 CPACG(几乎 100%)中主要诊断为晚期。在 CPACG 和 POAG 中,MME 最常累及黄斑周围的下象限(83.12%)。CPACG和POAG发生MME的危险因素包括视野平均偏差(MD)较低(OR=1.14,95% CI:1.06-1.21,P< 0.001)和年龄较小(OR=0.96,95% CI:0.93-0.99,P= 0.003),而女性(OR=0.30,95% CI:0.11-0.84,P= 0.022)会降低POAG的MME发生率:结论:CPACG 和 POAG 患者都可能发生 MME,POAG 患者的发生率更高。下黄斑周围区域常受影响。年龄较小和视野较差是青光眼患者发生 MME 的危险因素。
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引用次数: 0
Improving Accuracy of In-The-Bag Intraocular Lens Power Calculation in Adult Eyes with Unilateral Subluxated Lenses by Using the Anterior Chamber Depth of the Unaffected Eye. 通过使用未受影响眼的前房深度,提高单侧晶状体下移成眼的袋内眼内透镜功率计算的准确性。
IF 2.1 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-01-01 Epub Date: 2024-03-25 DOI: 10.1159/000538234
Wei Lou, Ziang Chen, Yang Huang, Haiying Jin

Introduction: This study aimed to determine the interchangeability of bilateral anterior chamber depth (ACD) in intraocular lens (IOL) power calculations for cataractous eyes and refractive outcomes using the unaffected fellow eye's ACD in subluxated crystalline lenses.

Methods: The predicted postoperative spherical equivalent (SE) calculated using the Kane formula with and without fellow eye's ACD in 202 cataract patients was compared. Refractive outcomes of the newer formulas (the Kane, Barrett Universal II [BUII], and Pearl-DGS formulas) with affected eye's ACD and with unaffected fellow eye's ACD were compared in 33 eyes with lens subluxation (the affected eye) undergoing in-the-bag IOL implantation. The SD of the prediction error (PE) was assessed using the heteroscedastic method.

Results: In 202 paired cataractous eyes, no marked ACD difference was found bilaterally; the predicted SE obtained without the fellow eye's ACD was comparable with that calculated with the fellow eye one (p = 0.90), with a mean absolute difference of 0.03 ± 0.03 D. With the affected eye AL, keratometry, and ACD, the median absolute error (MedAE) was 0.38-0.64 D, and the percentage of PE within ±0.50 D was 30.30-57.58%. The unaffected eye's ACD improved the results (MedAE, 0.35-0.49 D; the percentage of PE within ±0.50 D, 54.55-63.64%). The SDs of the BUII (0.82 D) and Pearl-DGS formulas (0.87 D) with the affected eye's ACD were significantly larger than those of the Kane and Pearl-DGS formulas (both 0.69 D) with the unaffected eye's ACD.

Conclusion: Bilateral ACD was interchangeable in IOL power calculation for cataractous eyes when using the Kane formula. Unaffected eye's ACD in lieu of affected eye's ACD can enhance the accuracy of newer formulas in patients with unilateral subluxated lenses undergoing in-the-bag IOL implantation.

简介:本研究旨在确定在计算白内障眼的人工晶体(IOL)功率时双侧前房深度(ACD)的互换性,以及在晶状体下移时使用未受影响的同眼ACD的屈光结果:对 202 例白内障患者使用 Kane 公式计算出的术后预测球面等效值 (SE) 进行了比较,其中包含和不包含同眼 ACD。方法:比较了 202 例白内障患者在使用 Kane 公式计算术后球面等值(SE)时有无同眼 ACD 的预测结果。采用异方差法评估了预测误差(PE)的标度:在 202 只配对的白内障患眼中,未发现双侧 ACD 有明显差异;在没有同侧眼 ACD 的情况下获得的预测 SE 与使用同侧眼 ACD 计算的 SE 相当(P = .90),平均绝对差异为 0.03 ± 0.03D。使用患眼AL、角膜计和ACD,中位绝对误差(MedAE)为0.38-0.64D,±0.50D以内的PE百分比为30.30-57.58%。无患眼 ACD 的结果有所改善(MedAE,0.35-0.49D;±0.50D 以内的 PE 百分比为 54.55-63.64%)。患眼 ACD 的 BUII(0.82D)和 Pearl-DGS 公式(0.87D)的 SD 明显大于非患眼 ACD 的 Kane 和 Pearl-DGS 公式(均为 0.69D):结论:在计算白内障眼睛的人工晶体力时,双侧 ACD 可以互换。对于接受囊内人工晶体植入术的单侧亚脱位晶状体患者,用非患眼 ACD 代替患眼 ACD 可以提高新公式的准确性。
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引用次数: 0
Pharmacokinetics-Based Safety Evaluation in Half-Dose Verteporfin Photodynamic Therapy. 基于药代动力学的半剂量维替泊芬光动力疗法安全性评估
IF 2 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-01-01 Epub Date: 2024-09-26 DOI: 10.1159/000541619
Hyeong Min Kim, Hyuncheol Kim, Jae Yong Chung, Se Joon Woo

Introduction: This study was conducted to assess the systemic pharmacokinetic profiles of half-dose verteporfin photodynamic therapy (PDT) using concentration data from a previous clinical trial and to subsequently suggest safety precaution guidelines.

Methods: Coefficients for the bi-exponential model were obtained from published data on post-infusion plasma verteporfin concentrations within a period of 0.17-4 h. Using the extrapolative forecasting method, we plotted the 48-h post-verteporfin plasma concentration model. The time required to achieve a comparable level of verteporfin 48 h after a conventional dose (6 mg/m2 body surface area, BSA) infusion was calculated for a half-dose infusion (3 mg/m2 BSA).

Results: At 24 and 48 h post-verteporfin infusion, the plasma concentration following the conventional dose was 1.28 × 10-4 µg/mL and 5.06 × 10-8 µg/mL, compared to 3.57 × 10-5 µg/mL and 7.54 × 10-9 µg/mL for the half-dose PDT, representing concentrations that were 3.6 times and 6.7 times higher, respectively. The estimated time required to attain the same level of verteporfin 48 h after a conventional dose was calculated as 42-h post-half-dose PDT.

Conclusions: The results of this study indicate that precautionary measures should be taken to avoid sunlight following both half and conventional doses of PDT during the similar post-treatment periods of two days. Nevertheless, given the substantially higher plasma concentration levels associated with conventional-dose PDT compared with the half-dose, systemic safety should be carefully considered when administering conventional-dose PDT.

简介本研究旨在利用之前临床试验中的浓度数据,评估半剂量verteporfin光动力疗法(PDT)的全身药代动力学特征,并据此提出安全预防指南:方法:双指数模型的系数来自已发表的注射后0.17-4小时内verteporfin血浆浓度数据。计算了常规剂量(6 毫克/平方米体表面积)输注(3 毫克/平方米体表面积)半剂量输注(3 毫克/平方米体表面积)48 小时后verteporfin 浓度达到可比水平所需的时间:结果:输注维替泊芬后24小时和48小时,常规剂量的血浆浓度分别为1.28×10-⁴ µg/mL和5.06×10-⁸ µg/mL,而半剂量PDT的血浆浓度分别为3.57×10-⁵ µg/mL和7.54×10-⁹ µg/mL,分别高出3.6倍和6.7倍。根据计算,常规剂量 PDT 48 小时后达到相同的 verteporfin 浓度所需的时间为半剂量 PDT 后 42 小时:本研究结果表明,无论是半剂量还是常规剂量的光动力疗法,都应该采取必要的预防措施,避免阳光照射。尽管如此,鉴于常规剂量 PDT 的血浆浓度水平远高于半剂量 PDT,因此在使用常规剂量 PDT 时应充分考虑系统安全性。
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引用次数: 0
Retinal Sensitivity in Macular Subfields and Their Association with Contrast Sensitivity in Early and Intermediate Age-Related Macular Degeneration. 早期和中期老年性黄斑变性的黄斑亚区视网膜敏感度及其与对比敏感度的关系。
IF 2 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-01-01 Epub Date: 2024-07-24 DOI: 10.1159/000540312
Eric J Chan, Philipp Anders, Simona A Garobbio, Ursula Hall, Chrysoula Gabrani, Kristina Pfau, Hanna Camenzind Zuche, Stefan Futterknecht, Maximilian Pfau, Michael Herzog, Ghislaine L Traber, Hendrik P N Scholl

Introduction: The objective of this study was to evaluate retinal sensitivity in subfields and its association with the novel quantitative contrast sensitivity function (qCSF) in patients with early age-related macular degeneration (eAMD), in patients with intermediate AMD (iAMD), and in healthy controls.

Methods: In this prospective longitudinal study, retinal sensitivity of a customized 24-point grid was assessed by microperimetry Macular Integrity Assessment (MAIA, CenterVue, Padova, Italy) and divided into different subfields. The Multiple Contrast Vision Meter (Adaptive Sensory Technology, San Diego, CA, USA) was used for qCSF testing. Linear models were used to test the association of functional metrics with variables of interest.

Results: 92 study eyes from 92 participants were analyzed (13 eAMD, 31 iAMD, and 48 controls). Microperimetry subfield comparison showed significant differences (p < 0.0001) in the control group between superior and inferior hemifield as well as between central and peripheral subfields. For eAMD, significant differences were found between central and peripheral subfields (p < 0.001) and specific subfields (p < 0.05) and finally for iAMD between specific quadrants (p < 0.05) and specific squares (p < 0.05). Significant associations of retinal sensitivity with qCSF metrics were found for the area underneath the logarithmic contrast sensitivity function, contrast acuity and for the contrast sensitivity at specific spatial frequencies.

Conclusions: This study showed significant differences in the evaluated retinal sensitivity subfields, providing localized natural history data for retinal sensitivity in healthy controls and patients with eAMD and iAMD.

目的 评估早期老年性黄斑变性(eAMD)患者、中期老年性黄斑变性(iAMD)患者和健康对照组的亚视场视网膜灵敏度及其与新型快速对比灵敏度功能(qCSF)的关联。方法 在这项前瞻性纵向研究中,通过微透视法黄斑完整性评估(MAIA,CenterVue,意大利帕多瓦)对定制的 24 点网格的视网膜灵敏度进行评估,并将其划分为不同的子领域。多重对比度视力表(Adaptive Sensory Technology,加利福尼亚州圣迭戈)用于 qCSF 测试。线性模型用于检验功能指标与相关变量之间的关联。结果 分析了 92 名参与者的 92 只研究眼(13 只 eAMD 眼、31 只 iAMD 眼和 48 只对照组眼)。显微视力表子视场比较显示,对照组的上半视场和下半视场以及中央子视场和周边子视场之间存在显著差异(p<0.0001)。在 eAMD 中,中央和周边子场(p<0.001)以及特定子场(p<0.05)之间存在显著差异;在 iAMD 中,特定象限(p<0.05)和特定方格(p<0.05)之间存在显著差异。在对数对比敏感度函数下方区域(AULCSF)、对比敏锐度(CA)和特定空间频率下的对比敏感度方面,发现视网膜敏感度与 qCSF 指标有显著关联。结论 这项研究显示,所评估的视网膜灵敏度子场存在显著差异,为健康对照组、eAMD 和 iAMD 患者的视网膜灵敏度提供了局部自然历史数据。
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引用次数: 0
Closure Grading and Visual Outcome in Patients with Large Idiopathic Macular Holes: A Spectral-Domain Optical Coherence Tomography Observation. 特发性大黄斑孔患者的闭合分级和视觉效果:光谱域光学相干断层扫描观察。
IF 2.1 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-01-01 Epub Date: 2024-01-22 DOI: 10.1159/000536205
Yanping Yu, Zengyi Wang, Jing Wang, Biying Qi, Lingzi Liu, Zi-Bing Jin, Wu Liu

Introduction: So far, there has been no closure grade system synthesizing morphological and microstructural features for large idiopathic macular holes (IMHs) treated by vitrectomy and internal limiting membrane (ILM) peeling. This study aimed to propose a concise one and explore its relevance with visual acuity and the related preoperative factors.

Methods: Consecutive patients with large IMHs (minimum diameter >400 μm), undergoing vitrectomy and ILM peeling, obtaining primary closure and regularly followed-up were enrolled. Preoperative clinical charts and spectral-domain optical coherence tomography (SD-OCT) parameters were reviewed. SD-OCT images and best corrected visual acuity (BCVA) were assessed at 1, 4, and 10 months postoperatively. SD-OCT features at last visit were categorized by BCVA significance, and preoperative risk factors were analyzed.

Results: Sixty-eight eyes from 64 patients were enrolled. The 10-month postoperative SD-OCT images were categorized into closure grade 1, 2, and 3 with successively decreased BCVA (p < 0.001). During early follow-up, part of grades 2 and 3 could evolve into the upper grade, respectively, but grade 3 could never evolve into grade 1 and exhibited the least satisfactory long-term BCVA. Binary logistic regression showed that large minimum linear diameter (MLD) was a risk factor for grade 3 occurrence (p < 0.001), with a cutoff value of 625.5 μm from the receiver operating characteristic curve for MLD predicting grade 3 occurrence (p = 0.001).

Conclusion: Long-term closure status of large IMHs could be categorized into three grades with BCVA significance. Large horizontal MLD is a risk factor for occurrence of grade 3 closure with unsatisfactory visual recovery.

导言:迄今为止,还没有一个综合形态学和微观结构特征的闭合等级系统,可用于通过玻璃体切除术和内缘膜(ILM)剥离术治疗的特发性黄斑大孔(IMH)。本研究旨在提出一种简明的方法,并探讨其与视力和相关术前因素的相关性:方法:选取接受玻璃体切除术和内层限界膜剥离术、获得原发闭合并定期随访的大型 IMH 患者(最小直径大于 400μm)作为研究对象。对术前临床病历和光谱域光学相干断层扫描(SD-OCT)参数进行了审查。术后1个月、4个月和10个月对SD-OCT图像和最佳矫正视力(BCVA)进行评估。根据 BCVA 的显著性对最后一次就诊时的 SD-OCT 特征进行分类,并对术前风险因素进行分析:结果:64 名患者的 68 只眼睛入选。术后 10 个月的 SD-OCT 图像被分为闭合 1 级、2 级和 3 级,BCVA 逐年下降(PConclusion:大IMH的长期闭合状态可分为三个等级,其BCVA意义重大。大的水平 MLD 是发生 3 级闭合且视力恢复不理想的风险因素。
{"title":"Closure Grading and Visual Outcome in Patients with Large Idiopathic Macular Holes: A Spectral-Domain Optical Coherence Tomography Observation.","authors":"Yanping Yu, Zengyi Wang, Jing Wang, Biying Qi, Lingzi Liu, Zi-Bing Jin, Wu Liu","doi":"10.1159/000536205","DOIUrl":"10.1159/000536205","url":null,"abstract":"<p><strong>Introduction: </strong>So far, there has been no closure grade system synthesizing morphological and microstructural features for large idiopathic macular holes (IMHs) treated by vitrectomy and internal limiting membrane (ILM) peeling. This study aimed to propose a concise one and explore its relevance with visual acuity and the related preoperative factors.</p><p><strong>Methods: </strong>Consecutive patients with large IMHs (minimum diameter &gt;400 μm), undergoing vitrectomy and ILM peeling, obtaining primary closure and regularly followed-up were enrolled. Preoperative clinical charts and spectral-domain optical coherence tomography (SD-OCT) parameters were reviewed. SD-OCT images and best corrected visual acuity (BCVA) were assessed at 1, 4, and 10 months postoperatively. SD-OCT features at last visit were categorized by BCVA significance, and preoperative risk factors were analyzed.</p><p><strong>Results: </strong>Sixty-eight eyes from 64 patients were enrolled. The 10-month postoperative SD-OCT images were categorized into closure grade 1, 2, and 3 with successively decreased BCVA (p &lt; 0.001). During early follow-up, part of grades 2 and 3 could evolve into the upper grade, respectively, but grade 3 could never evolve into grade 1 and exhibited the least satisfactory long-term BCVA. Binary logistic regression showed that large minimum linear diameter (MLD) was a risk factor for grade 3 occurrence (p &lt; 0.001), with a cutoff value of 625.5 μm from the receiver operating characteristic curve for MLD predicting grade 3 occurrence (p = 0.001).</p><p><strong>Conclusion: </strong>Long-term closure status of large IMHs could be categorized into three grades with BCVA significance. Large horizontal MLD is a risk factor for occurrence of grade 3 closure with unsatisfactory visual recovery.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":" ","pages":"192-200"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139521142","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic Testing Experiences of People Living with Inherited Retinal Degenerations: Results of a Global Survey. 遗传性视网膜变性(IRDs)患者的基因检测经历--全球调查结果。
IF 2.1 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-01-01 Epub Date: 2024-02-17 DOI: 10.1159/000537818
Nabin Paudel, Avril Daly, Fiona Waters, Petia Stratieva

Introduction: Obtaining a genetic diagnosis via genetic testing (GT) is a fundamental step in determining the eligibility of a patient to be enrolled in emerging clinical trials and research studies. Besides, the knowledge of genetic outcome allows patients to plan for significant life choices. However, critical barriers exist to an equitable access to genetic services globally. The objective of this study was to explore patient experiences while seeking genomic services for inherited retinal degenerations (IRDs).

Methods: An online survey was designed based on a focus group conducted by Retina International and including people affected by IRDs and their families living in different regions around the world. The survey was then circulated to 43 Retina International member organisations globally via email newsletters and social networks. The survey involved questions in relation to the accessibility, affordability, and timeliness of genomic services for IRDs as well as patient perceived awareness of genomic services for IRDs among healthcare professionals.

Results: A total of 410 respondents (IRD patients and caregivers) from over 30 countries across all continents responded to the survey. A considerable number of the patients had to go through a long and arduous journey to access GT and counselling services, wherein 40% had to visit more than 5 physicians, 27% had to visit more than 5 clinics, and 57% had to wait for more than 3 years before obtaining a genetic diagnosis. Furthermore, 46% of respondents reported not receiving genetic counselling prior to undergoing GT, and 39% reported not receiving genetic counselling after undergoing GT. Over 3/4th of the participants reported that they did not have to pay for their genomic services for IRDs. Thirty-seven percent of the respondents reported that their eye care professionals (ECPs) were either not aware of GT, remained neutral, or did not encourage them to undergo GT.

Conclusion: Patients with IRDs do not have equitable access to best practice GT and counselling services. Greater awareness and training regarding IRDs and the benefits of GT and genetic counselling for patients and families are needed among ECPs. A best practice model on access to genomic services for IRDs is required.

导言:通过基因检测获得基因诊断是决定患者是否有资格参加新兴临床试验和研究的基本步骤。此外,对遗传结果的了解还能让患者计划重大的人生选择。然而,在全球范围内,公平获得遗传服务还存在严重障碍。本研究旨在探讨患者在寻求 IRDs 基因组服务时的经历:方法:根据视网膜国际组织(Retina International)开展的焦点小组活动设计了一项在线调查,调查对象包括生活在全球不同地区的 IRD 患者及其家属。然后通过电子邮件通讯和社交网络向全球 43 个视网膜国际成员组织分发了调查问卷。调查涉及的问题包括:IRD基因组服务的可及性、可负担性和及时性,以及医护人员对IRD基因组服务的认知度:共有来自各大洲 30 多个国家的 410 名受访者(IRD 患者和护理人员)参与了调查。其中,40%的患者需要看 5 个以上的医生,27%的患者需要看 5 个以上的诊所,57%的患者需要等待 3 年以上才能获得基因诊断。此外,46% 的受访者表示在接受基因检测前没有接受过基因咨询,39% 的受访者表示在接受基因检测后没有接受过基因咨询。超过四分之三的受访者表示,他们无需为 IRD 的基因组服务付费。37%的受访者表示,他们的眼科专业人员要么不了解基因检测,要么保持中立,要么不鼓励他们接受基因检测:结论:IRD 患者无法公平地获得最佳基因检测和咨询服务。眼科护理专业人员需要加强对遗传性视网膜变性以及基因检测和基因咨询对患者和家属的益处的认识和培训。需要为IRD患者提供基因组服务的最佳实践模式。
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引用次数: 0
Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland. 瑞士西部视网膜色素变性和其他遗传性视网膜疾病的遗传学。
IF 2.1 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-01-01 Epub Date: 2023-12-29 DOI: 10.1159/000536036
Giovanni Marco Conti, Veronika Vaclavik, Carlo Rivolta, Pascal Escher, Daniel Francis Schorderet, Francis L Munier, Hoai Viet Tran

Introduction: Mutational screening of inherited retinal disorders is prerequisite for gene targeted therapy. Our aim was to report and analyze the proportions of mutations in inherited retinal disease (IRD)-causing genes from a single center in Switzerland in order to describe the distribution of IRDs in Western Switzerland.

Methods: We conducted a retrospective study of patient records. Criteria for inclusion were residence in Western Switzerland for patients and relatives presenting a clinical diagnosis of IRDs and an established molecular diagnosis managed by the genetics service of the Jules-Gonin Eye Hospital (JGEH) of Lausanne between January 2002 and December 2022. We initially investigated the IRD phenotypes in all patients (full cohort) with a clinical diagnosis, then calculated the distribution of IRD gene mutations in the entire cohort (genetically determined cohort). We analyzed a sub-group that comprised pediatric patients (≤18 years of age). In addition, we calculated the distribution of gene mutations within the most represented IRDs. Comprehensive gene screening was performed using a combined approach of different generation of DNA microarray analysis, direct sequencing, and Sanger sequencing.

Results: The full cohort comprised 899 individuals from 690 families with a clinical diagnosis of IRDs. We identified 400 individuals from 285 families with an elucidated molecular diagnosis (variants in 84 genes) in the genetically determined cohort. The pediatric cohort included 89 individuals from 65 families with an elucidated molecular diagnosis. The molecular diagnosis rate for the genetically determined cohort was 58.2% (family ratio) and the 5 most frequently implicated genes per family were ABCA4 (11.6%), USH2A (7.4%), EYS (6.7%), PRPH2 (6.3%), and BEST1 (4.6%). The pediatric cohort had a family molecular diagnosis rate of 64.4% and the 5 most common mutated genes per family were RS1 (9.2%), ABCA4 (7.7%), CNGB3 (7.7%), CACNA1F (6.2%), CEP290 (4.6%).

Conclusions: This study describes the genetic mutation landscape of IRDs in Western Switzerland in order to quantify their disease burden and contribute to a better orientation of the development of future gene targeted therapies.

导言:遗传性视网膜疾病的基因突变筛查是基因靶向治疗的先决条件。我们的目的是报告和分析瑞士一个中心的遗传性视网膜疾病(IRD)致病基因突变比例,以描述瑞士西部IRD的分布情况:我们对患者记录进行了回顾性研究。纳入标准为:2002 年 1 月至 2022 年 12 月期间,居住在瑞士西部、临床诊断为 IRDs 且已通过洛桑儒勒-戈宁眼科医院(JGEH)遗传学服务部门分子诊断的患者及其亲属。我们首先调查了所有获得临床诊断的患者(完整队列)的 IRD 表型,然后计算了整个队列(基因确定队列)中 IRD 基因突变的分布情况。我们分析了由儿童患者(≤ 18 岁)组成的子群。此外,我们还计算了最具代表性的 IRD 基因突变的分布情况。我们采用不同年代的DNA芯片分析、直接测序和桑格测序相结合的方法进行了全面的基因筛查:整个队列包括来自 690 个家庭的 899 名临床诊断为 IRD 的患者。我们在基因确定的队列中确定了来自 285 个家庭的 400 人,他们的分子诊断均已明确(84 个基因存在变异)。儿科队列包括来自 65 个家庭的 89 名分子诊断明确的患者。基因测定队列的分子诊断率为 58.2%(家族比率),每个家族最常涉及的 5 个基因是 ABCA4(11.6%)、USH2A(7.4%)、EYS(6.7%)、PRPH2(6.3%)和 BEST1(4.6%)。儿科队列的家族分子诊断率为64.4%,每个家族中最常见的5个突变基因是RS1(9.2%)、ABCA4(7.7%)、CNGB3(7.7%)、CACNA1F(6.2%)和CEP290(4.6%):本研究描述了瑞士西部 IRD 的基因突变情况,以量化其疾病负担,并有助于更好地确定未来基因靶向疗法的发展方向。
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引用次数: 0
Comparison of Changes in Retinal Vascular Parameters and Density in Patients with Moyamoya Disease: A Retrospective Study. 莫亚莫亚病患者视网膜血管参数和密度变化的比较:回顾性研究
IF 2.1 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-01-01 Epub Date: 2024-03-14 DOI: 10.1159/000538296
Xijuan Wang, Ying Meng, Dan Song, Cunxin Tan, Guanzheng Wang, Bin Lv, Yuan Ni, Guotong Xie, Ting Cui, Yan Zhang, Yaqian Niu, Chengxia Zhang, Guangfeng Liu

Introduction: This study aimed to compare retinal vascular parameters and density in patients with moyamoya disease using the optical coherence tomography angiography.

Methods: This clinical trial totally enrolls 78 eyes from 39 participants, and all these patients with moyamoya disease (N = 13) are set as experimental group and participants with health who matched with age and gender are considered as the control group (N = 26). Then all these participants receive optical coherence tomography angiography detection. Participants' general data are collected and analyzed. Skeleton density (SD) value, vessel density (VD) value, fractal dimension (FD) value, vessel diameter index (VDI) value, foveal avascular zone (FAZ) value are analyzed.

Results: A total of 39 participants are included in this study. The SD value in the experimental group was significantly lower than that in control group (0.175 [0.166, 0.181] vs. 0.184 [0.175, 0.188], p = 0.017). Similarly, the VD value in the experimental group was significantly lower than that in the control group (0.333 [0.320, 0.350] vs. 0.354 [0.337, 0.364], p = 0.024). Additionally, the FD value in the experimental group was significantly lower than that in the control group (2.088 [2.083, 2.094] vs. 2.096 [2.090, 2.101], p = 0.022). As for the VDI and FAZ, VDI and FAZ values in the experimental group were lower than those in the control group, there was no significant difference in VDI and FAZ values between the two groups.

Conclusions: Our study, using non-invasive and rapid OCTA imaging, confirmed decreased retinal vascular parameters and density in patients with moyamoya disease.

研究目的本研究旨在通过光学相干断层血管造影术比较莫亚莫亚病患者视网膜血管参数和密度:本临床试验共纳入 39 名参与者的 78 只眼睛,将所有这些 Moyamoya 病患者(N=13)设为实验组,将年龄和性别匹配的健康参与者设为对照组(N=26)。然后,所有参与者都接受光学相干断层扫描血管成像检测。收集并分析参与者的一般数据。分析骨架密度(SD)值、血管密度(VD)值、分形维度(FD)值、血管直径指数(VDI)值、眼窝血管区(FAZ)值:本研究共纳入 39 名参与者。实验组的 SD 值明显低于对照组 [0.175 (0.166, 0.181) vs. 0.184 (0.175, 0.188),P=0.017]。同样,实验组的 VD 值也明显低于对照组 [0.333 (0.320, 0.350) vs. 0.354 (0.337, 0.364),P=0.024]。此外,实验组的 FD 值明显低于对照组 [2.088 (2.083, 2.094) vs. 2.096 (2.090, 2.101),P=0.022]。至于 VDI 和 FAZ,实验组的 VDI 值和 FAZ 值均低于对照组,两组间的 VDI 值和 FAZ 值无显著差异:我们的研究采用无创、快速的 OCTA 成像技术,证实了莫亚莫亚病患者视网膜血管参数和密度的降低。
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引用次数: 0
Patient Experience Survey of Anti-Vascular Endothelial Growth Factor Treatment for Neovascular Age-Related Macular Degeneration and Diabetic Macular Edema. 抗血管内皮生长因子治疗新生血管性老年黄斑变性和糖尿病性黄斑水肿的患者体验调查。
IF 2 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-01-01 Epub Date: 2024-04-29 DOI: 10.1159/000538975
Nancy Holekamp, Brittany Gentile, Audrey Giocanti-Aurégan, Alfredo García-Layana, Tunde Peto, Francesco Viola, Peter J Kertes, Mirela Mirt, Aachal Kotecha, Jeremy Lambert, Hannah B Lewis, Gloria C Chi

Introduction: Understanding patient perspectives of treatment may improve adherence and outcomes. This study explored real-world patient experiences with anti-vascular endothelial growth factor (anti-VEGF) treatment for diabetic macular edema (DME) and neovascular age-related macular degeneration (nAMD).

Methods: This multinational, non-interventional, quantitative, cross-sectional, observational survey assessed treatment barriers/burden, patient-reported visual functioning, and treatment satisfaction in DME and nAMD patients in the USA, the UK, Canada, France, Italy, and Spain. Treatment patterns and visual outcomes were extracted from medical charts. Regression models evaluated relationships between adherence, total missed visits, number of anti-VEGF injections, and clinical and patient-reported outcomes for visual functioning. Association between treatment satisfaction and aspects of burden were assessed.

Results: The survey was completed by 183 DME and 391 nAMD patients. Patients had moderately high vision-related functioning (25-item National Eye Institute Visual Functioning Questionnaire score: mean = 74.8) and were satisfied with their current treatment (mean total score: Macular Disease Treatment Satisfaction Questionnaire = 59.2; Retinopathy Treatment Satisfaction Questionnaire = 61.3). Treatment satisfaction scores were worse with higher time-related impacts of treatment (nAMD/DME), higher impacts on finances and daily life (nAMD), negative impacts on employment and lower expectations for treatment effectiveness (DME). Most patients reported ≥1 barrier (66.1% DME, 49.2% nAMD patients) related to treatment (35.0%), clinic (32.6%), and COVID-19 (21.1%). Moreover, 44.9% of patients reported some impairment in activities of daily living. Work absenteeism was observed among >60% of working patients. Nearly one-quarter (24.2%) of patients needed ≥1 day to recover from intravitreal injections; most reported ≥30 min of travel time (73.7%) and clinic wait time (54.2%). In unadjusted univariable analyses, treatment adherence (vs. nonadherence) was related to higher most recent visual acuity (β = 8.98 letters; CI, 1.34-16.62) and lower odds of visual acuity below driving vision (≤69 letters) (OR = 0.50; CI, 0.25-1.00).

Conclusion: More durable treatments with reduced frequency of injections/visits may reduce treatment burden and improve patient satisfaction, which may enhance adherence and visual outcomes.

简介了解患者对治疗的看法可提高治疗的依从性和疗效。本研究探讨了抗血管内皮生长因子(anti-VEGF)治疗糖尿病性黄斑水肿(DME)和新生血管性年龄相关性黄斑变性(nAMD)的真实患者体验:这项跨国、非干预、定量、横断面、观察性调查评估了美国、英国、加拿大、法国、意大利和西班牙 DME 和 nAMD 患者的治疗障碍/负担、患者报告的视觉功能和治疗满意度。治疗模式和视觉结果均从病历中提取。回归模型评估了依从性、错过的就诊总次数、抗血管内皮生长因子注射次数以及临床和患者报告的视觉功能结果之间的关系。此外,还评估了治疗满意度与治疗负担之间的关系:183 名 DME 和 391 名 nAMD 患者完成了调查。患者的视力相关功能中等偏上(美国国家眼科研究所视觉功能问卷 25 项评分:平均值=74.8),并对目前的治疗感到满意(平均总分:74.8):黄斑病变治疗满意度问卷=59.2;视网膜病变治疗满意度问卷=61.3)。治疗满意度得分越低,与治疗时间相关的影响越大(nAMD/DME),对经济和日常生活的影响越大(nAMD),对就业的负面影响越大,对治疗效果的期望越低(DME)。大多数患者(66.1% 的 DME 患者和 49.2% 的 nAMD 患者)在治疗(35.0%)、门诊(32.6%)和 COVID-19 (21.1%)方面遇到了≥1 个障碍。此外,44.9% 的患者表示日常生活活动受到了一定的影响。超过 60% 的在职患者存在旷工现象。近四分之一(24.2%)的患者需要≥1天的时间从玻璃体内注射中恢复过来;大多数患者报告的交通时间(73.7%)和门诊等待时间(54.2%)≥30分钟。在未经调整的单变量分析中,坚持治疗(vs 不坚持治疗)与最近视力较高(β = 8.98 个字母;CI,1.34-16.62)和视力低于驾驶视力(≤ 69 个字母)的几率较低(OR = 0.50;CI,0.25-1.00)有关:减少注射/就诊次数的更持久治疗可减轻治疗负担,提高患者满意度,从而提高依从性和视觉效果。
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引用次数: 0
Differentiating Ischemic Optic Neuropathy from Glaucoma Using Diagnostic Tests. 利用诊断测试区分缺血性视神经病变和青光眼。
IF 2.1 4区 医学 Q2 OPHTHALMOLOGY Pub Date : 2024-01-01 Epub Date: 2024-01-23 DOI: 10.1159/000535568
Frédéric Smeets, Astrid Margot, João Barbosa-Breda, Ingeborg Stalmans, Sophie Lemmens

Introduction: Anterior ischemic optic neuropathy (AION) can mimic glaucoma and consequently cause difficulties in differential diagnosis. The purpose of this paper was to summarize differences in diagnostic tests that can help perform a correct diagnosis.

Methods: The search strategy was performed according to the PRISMA 2009 guidelines, and four databases were used: MEDLINE, Embase, Web of Science, and Cochrane. Totally, 772 references were eligible; 39 were included after screening with respect to inclusion criteria that included English language and published in the 20 years before search date.

Results: Ninety percent (n = 35) of included studies used optical coherence tomography (OCT). Glaucomatous eyes had a significantly greater cup area, volume and depth, cup-to-disk ratio, a lower rim volume and area, and a thinner Bruch's membrane opening-minimum rim width. Retinal nerve fiber layer (RNFL) thinning in glaucomatous eyes occurred primarily at the superotemporal, inferotemporal, and inferonasal sectors, while AION eyes demonstrated mostly superonasal thinning. Glaucoma eyes showed greater macular ganglion cell layer thickness, except at the inferotemporal sector. OCT angiography measurements demonstrated a significant decrease in superficial and deep macular vessel density (VD) in glaucoma compared to AION with similar degree of visual field damage; the parapapillary choroidal VD was spared in AION eyes compared to glaucomatous eyes.

Conclusion: By use of OCT imaging, optic nerve head parameters seem most informative to distinguish between glaucoma and AION. Although both diseases affect the RNFL thickness, it seems to do so in different sectors. Differences in structure and vascularity of the macula can also help in making the differential diagnosis.

简介前部缺血性视神经病变(AION)可与青光眼相似,因此给鉴别诊断带来困难。本文旨在总结诊断测试的差异,以帮助进行正确诊断:方法:根据 PRISMA 2009 指南执行搜索策略,使用了四个数据库:Medline、Embase、Web of Science 和 Cochrane。符合条件的参考文献有 772 篇;根据纳入标准(包括英语和检索日期前 20 年内发表的文献)筛选后,39 篇被纳入:90%(n=35)的纳入研究使用了光学相干断层扫描(OCT)。青光眼患者的杯面积、体积和深度、杯盘比明显增大,边缘体积和面积减小,布氏膜开口-最小边缘宽度变薄。青光眼眼的视网膜神经纤维层(RNFL)变薄主要发生在颞上、颞下和颞下区,而 AION 眼则主要表现为颞上变薄。除颞下部外,青光眼眼的黄斑神经节细胞层厚度更大。OCT血管造影测量显示,在视野(VF)损伤程度相似的情况下,青光眼眼的黄斑浅层和深层血管密度(VD)比AION眼显著降低;与青光眼眼相比,AION眼的毛细血管旁脉络膜VD幸免于难:结论:通过 OCT 成像,视神经头(ONH)参数似乎对区分青光眼和 AION 最有参考价值。虽然这两种疾病都会影响 RNFL 厚度,但似乎影响的部位不同。黄斑结构和血管的差异也有助于做出鉴别诊断。
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引用次数: 0
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Ophthalmic Research
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