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A Narrative Review of Morquio Syndrome: Mucopolysaccharidosis (MPS) Type IV Morquio综合征:粘多糖病(MPS) IV型述评
Q4 OPHTHALMOLOGY Pub Date : 2023-10-13 DOI: 10.2174/18743641-v17-230822-2022-61
Andrew C.W. Robart, Abbey F. J. Alexander, Adil Al-Mehiawi, Ismael Abuallut, Nir Shoham Hazon
Background: Morquio Syndrome or Mucopolysaccharidosis Type IV (MPS IV) is a rare inherited metabolic disorder characterized by the deficiency of certain lysosomal enzymes involved in the breakdown of mucopolysaccharides. The deficiency results in proteoglycan accumulation, particularly keratan sulfate in various tissues in the body. Morquio Syndrome is classified into two subtypes: Morquio A and Morquio B, which are distinguished by the specific enzyme deficiency involved, with Morquio A being more prevalent. Morquio Syndrome commonly affects the eyes with 46.7% of diagnosed patients experiencing ocular symptoms related to the disorder. Objective: To perform a comprehensive review of the existing literature and summarize the ophthalmological manifestations of Morquio Syndrome. Methods: A methodical literature search was conducted, including papers with abstracts discussing ophthalmology or ocular pathology of “Mucopolysaccharidosis Type IV” or ” Morquio Syndrome.” Twelve relevant articles met the inclusion criteria and were included in the review. Seven of the articles consisted of case reports, collectively reporting on forty-one patients with Morquio Syndrome, primarily Morquio A. The outcome of the narrative review is an overview of the existing literature on ocular presentations of Morquio Syndrome and a summary of case report findings. Results: Forty-one different patients were identified from the included case reports, and forty patients were included as they presented with ocular pathology related to Morquio Syndrome. Corneal opacification was the most common presentation where twenty-seven patients had significant corneal opacification and seven patients had slight corneal opacification. Small, gray, spherical, dust-like opacities that dispersed among the stroma were most commonly seen in cases with corneal opacification. Other ocular presentations included decreased visual acuity, astigmatism, lens opacities, and glaucoma. Conclusion: Morquio syndrome, a rare genetic disorder, exhibits multiple ocular symptoms, with corneal opacification being the most common. While most research has concentrated on Morquio A, the more severe subtype, there's limited information on Morquio B, highlighting a need for more comparative studies. As the syndrome remains incurable, exploring new treatment avenues and understanding the reasons behind these ocular manifestations can significantly improve the quality of life for Morquio patients.
背景:Morquio综合征或粘多糖病IV型(MPS IV)是一种罕见的遗传性代谢疾病,其特征是参与粘多糖分解的某些溶酶体酶缺乏。这种缺乏会导致蛋白聚糖的积累,尤其是硫酸角朊在体内的各种组织中。Morquio综合征分为两种亚型:Morquio A和Morquio B,这两种亚型根据所涉及的特定酶缺乏症来区分,其中Morquio A更为普遍。莫基奥综合征通常影响眼睛,46.7%的确诊患者出现与该疾病相关的眼部症状。目的:对现有文献进行综合复习,总结Morquio综合征的眼科表现。方法:系统地检索文献,包括讨论“粘多糖病IV型”或“Morquio综合征”的眼科或眼部病理的论文摘要。12篇相关文章符合纳入标准,被纳入本综述。其中7篇文章由病例报告组成,共报道了41例Morquio综合征患者,主要是Morquio a .叙述性回顾的结果是对Morquio综合征眼部表现的现有文献的概述和病例报告结果的总结。结果:从纳入的病例报告中确定了41例不同的患者,其中40例患者因出现与Morquio综合征相关的眼部病理而被纳入。角膜混浊是最常见的表现,27例患者有明显的角膜混浊,7例患者有轻微的角膜混浊。小的、灰色的、球形的尘埃样混浊物分散在基质中,最常见于角膜混浊。其他眼部表现包括视力下降、散光、晶状体混浊和青光眼。结论:Morquio综合征是一种罕见的遗传性疾病,表现为多种眼部症状,以角膜混浊最为常见。虽然大多数研究都集中在更严重的亚型Morquio A上,但关于Morquio B的信息有限,这表明需要进行更多的比较研究。由于该综合征仍然无法治愈,探索新的治疗途径并了解这些眼部表现背后的原因可以显着提高Morquio患者的生活质量。
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引用次数: 0
MGrx - A Novel Multi-modal Thermal Device for Treating Moderate to Severe Meibomian Gland Dysfunction and Dry Eye MGrx -一种治疗中重度睑板腺功能障碍和干眼症的新型多模态热装置
Q4 OPHTHALMOLOGY Pub Date : 2023-10-10 DOI: 10.2174/18743641-v17-231005-2023-13
Brittany J. McMurren, Michael A. Kling, Andrew Fasciani, M. Henrietta Nymark-McMahon
Background: MGD (meibomian gland dysfunction) is a chronic cause of dry eyes. Thermal expression of the meibomian glands, along with massage and debridement, is an effective treatment for MGD. Objective: We describe a multi-modal thermal device (MGrx) to manage meibomian gland dysfunction (MGD). We observed the efficacy and safety of the MGrx to manage MGD in one 15-minute in-office session. Methods: We enrolled 37 patients in a prospective, open-label trial of the novel MGrx. Patients were enrolled with a Standard Patient Evaluation for Eye Dryness (SPEED) score > 12 or a Tear Breakup Time (TBUT) of < 6 seconds in at least one eye. After screening for eligibility, one 15-minute MGrx treatment was provided to each patient. The patient assessment consisted of a SPEED score, TBUT, and a Meibomian gland score (MGS) obtained pre-treatment and at a follow-up visit 30 days after the treatment. Results: Dry eye symptoms improved in the patient population, as measured by SPEED score, MGS, and TBUT, by 40%, 341%, and 145%, respectively (p<0.05). No adverse reactions were noted among the patients. Conclusion: A single 15-minute MGrx treatment was effective at significantly improving dry eye symptoms secondary to MGD in adult patients, as measured by SPEED score. Additionally, a single MGrx treatment improved meibomian gland function and all measures of MGD in the adult patients treated. Given the relatively low risk and efficient delivery of the MGrx treatment, a single MGrx treatment should be considered as a first-line treatment for MGD.
背景:睑板腺功能障碍(MGD)是干眼症的一种慢性病因。热表达睑板腺,连同按摩和清创,是一种有效的治疗MGD。目的:介绍一种治疗睑板腺功能障碍(MGD)的多模态热装置(MGrx)。我们观察了MGrx在15分钟内治疗MGD的有效性和安全性。方法:我们招募了37名患者进行新型MGrx的前瞻性开放标签试验。患者被纳入标准患者眼干评估(SPEED)评分;12或撕心裂意时间(TBUT)为<至少一只眼睛有6秒。筛选合格后,为每位患者提供一次15分钟的MGrx治疗。患者评估包括治疗前和治疗后30天随访时获得的SPEED评分、TBUT和睑板腺评分(MGS)。结果:通过SPEED评分、MGS和TBUT测量,患者人群的干眼症状分别改善了40%、341%和145% (p<0.05)。患者无不良反应。结论:通过SPEED评分,单次15分钟MGrx治疗可显著改善成人MGD继发干眼症状。此外,单次MGrx治疗可改善成年患者的睑板腺功能和所有MGD指标。鉴于MGrx治疗的风险相对较低且有效,应考虑将单一MGrx治疗作为MGD的一线治疗。
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引用次数: 0
Determinants of Refractive Errors on School-going Children Attending Ophthalmic Clinic of AlMoosa Hospital in Saudi Arabia 沙特阿拉伯AlMoosa医院眼科门诊就学儿童屈光不正的决定因素
Q4 OPHTHALMOLOGY Pub Date : 2023-10-04 DOI: 10.2174/18743641-v17-e230925-2023-7
Ayoob Lone, Fahad Abdullah Saeed AlWadani, Abdulrahman Alnaim
Objective: The risk factors for vision problems in youngsters are relatively unknown in Saudi Arabia. The purpose of this study was to examine the determinants of refractive errors among school-going children attending the ophthalmic clinic of AlMoosa Hospital in Saudi Arabia. Methodology: A sample of 161 school-going children were recruited voluntarily to complete a set of measures examining the determinants of refractive errors. The binary logistic regression model was applied to determine the relationship between independent and dependent variables. Results: Refractive errors were common among Saudi school-going children, with myopia being the most common type of refractive error. About 96 (59.6%) samples had myopia, 28 (17.4%) children had hyperopia and 27 (16.8%) children did not have any refractive error. Genetic traits and machine dependence were found to be significant predictors of refractive error. Conclusion: The preschool eye test and routine vision investigation should be performed on children to detect refractive errors early.
目的:在沙特阿拉伯,青少年视力问题的危险因素相对未知。本研究的目的是研究在沙特阿拉伯AlMoosa医院眼科诊所就诊的学龄儿童屈光不正的决定因素。研究方法:研究人员自愿招募了161名学龄儿童,让他们完成一系列检查屈光不正决定因素的测试。采用二元logistic回归模型确定自变量与因变量之间的关系。结果:屈光不正在沙特学龄儿童中很常见,近视是最常见的屈光不正类型。近视96例(59.6%),远视28例(17.4%),无屈光不正27例(16.8%)。遗传性状和机器依赖性被发现是屈光不正的重要预测因素。结论:儿童应进行学龄前视力检查和常规视力检查,及早发现屈光不正。
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引用次数: 0
A Systematic Review and Meta-analysis of Convergence Insufficiency Prevalence and Management Options 趋同功能不全患病率及管理方案的系统回顾与荟萃分析
Q4 OPHTHALMOLOGY Pub Date : 2023-08-03 DOI: 10.2174/18743641-v17-20230712-2023-8
Zoelfigar Mohamed, Saif Hassan Alrasheed
Background: Convergence insufficiency (CI) is one of the most common binocular vision disorders. The condition negatively affects the quality of life through its impact on near activities, while there is a large gap in the information on its global prevalence and consensus on treatment. Objectives: The purpose of this systematic review and meta-analysis was to assess the prevalence and treatment options available for convergence insufficiency. Methods: The study was performed in 2023 using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA-2020) guidelines. The authors have searched Google Scholar, Research Gate, Scopus, PubMed, Index Medicus, Web of Science, and the JAMA network. This review included peer-reviewed studies published between January 2000 to January 2023 that assessed the prevalence and treatment modalities of convergence insufficiency. Results: The authors screened 13250 studies, 20 for prevalence and 15 for treatment from 12 countries that met the inclusion criteria for the study. The overall pooled prevalence of convergence insufficiency was 7.98%, and the heterogeneity between the studies was highly significant P < 0.0001. Majorities of the studies 12(80%) reported that office-based vision therapy is the most effective treatment of CI, form those studies 5(42.0%) highlighted that office-based vergence/accommodative therapy with home reinforcement is the best modality of treatment. Whereas, home-based pencil push-up therapy, vision therapy with modified refractive correction, and vision therapy with prismatic correction were reported as effective treatment options for CI. The reviewed studies showed that vision therapy is highly effective to recover from symptomatic CI in both adults and children. Conclusion: The prevalence of convergence insufficiency was high, there was highly significant heterogeneity between the reviewed studies. Office-based vergence/accommodative therapy with home reinforcement is the best modality of treatment, followed by home-based pencil push-up therapy, vision therapy with modified refractive correction, and vision therapy with prismatic correction. There is consensus among reviewed studies that vision therapy is highly effective to recover from symptomatic CI in both adults and children.
背景:会聚不全是最常见的双目视力障碍之一。这种情况通过对附近活动的影响对生活质量产生负面影响,而关于其全球流行程度的信息和对治疗的共识存在很大差距。目的:本系统综述和荟萃分析的目的是评估收敛功能不全的患病率和可用的治疗方案。方法:该研究于2023年使用系统评价和荟萃分析首选报告项目(PRISMA-2020)指南进行。作者检索了Google Scholar、Research Gate、Scopus、PubMed、Index Medicus、Web of Science和JAMA网络。本综述纳入了2000年1月至2023年1月间发表的同行评议研究,评估了趋同功能不全的患病率和治疗方式。结果:作者筛选了来自12个国家的13250项研究,其中20项是患病率研究,15项是治疗研究,符合研究的纳入标准。收敛性不全的总发生率为7.98%,各研究间异质性极显著P <0.0001. 大多数研究12(80%)报告说,以办公室为基础的视力治疗是最有效的CI治疗,而那些研究5(42.0%)强调以办公室为基础的融合/适应性治疗与家庭强化是最好的治疗方式。然而,据报道,基于家庭的铅笔俯仰疗法、改良屈光矫正视力疗法和棱镜矫正视力疗法是CI的有效治疗选择。所回顾的研究表明,视力治疗对成人和儿童症状性CI的恢复都是非常有效的。结论:收敛功能不全的患病率较高,所回顾的研究之间存在高度显著的异质性。以办公室为基础的融合/调节治疗和家庭强化治疗是最好的治疗方式,其次是以家庭为基础的铅笔俯身治疗、改良屈光矫正视力治疗和棱镜矫正视力治疗。在回顾的研究中有一个共识,即视力治疗对于成人和儿童症状性CI的恢复都是非常有效的。
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引用次数: 0
Photodynamic and Anti-VEGF Therapy for Polypoidal Choroidal Vasculopathy - ‘Real World’ Outcomes in a Caucasian Population 光动力和抗vegf治疗息肉样脉络膜血管病变-高加索人群的“真实世界”结果
Q4 OPHTHALMOLOGY Pub Date : 2023-03-03 DOI: 10.2174/18743641-v17-e230214-2022-44
Kenneth M. Gilmour, David Young, Aaron Jamison, Monica Precup, David F. Gilmour
Background: The prevalence of polypoidal choroidal vasculopathy (PCV) is significantly higher amongst Asian populations compared to Caucasian, and evidence regarding the clinical outcomes of Caucasian patients is limited. Objective: This retrospective study sought to investigate real-world clinical outcomes of Caucasian PCV patients treated with polypoidal verteporfin photodynamic therapy (PDT) in combination with anti-VEGF therapy up to 36 months post-treatment. Methods: Consecutive PCV patients who received PDT between 2011 and 2017 were included. Mean change in visual acuity (VA) measured by ETDRS letter score and mean change in central subfield thickness (CST) were the main outcome measures. Data were collected at baseline, 3, 12, 24 and 36 months. Regression analyses were carried out on pre-treatment clinical features to determine if there were any factors associated with a good visual outcome (better than or equal to 70 ETDRS letters at 12 months). Results: Seventy six patients (96% Caucasian) and seventy eight eyes were included in the analysis. Mean change in VA was -1, -4, and 0 ETDRS letters at 12, 24, and 36 months, respectively. CST was reduced by a mean of -51, -54, and -55 microns at 12, 24, and 36 months, respectively. Better pre-treatment VA was the only pre-treatment clinical feature associated with a good visual outcome at 12 months (OR 1.16, p<0.001). Conclusion: PDT, in combination with anti-VEGF therapy, maintains VA and may reduce the anti-VEGF therapy burden in Caucasian patients with PCV. Better pre-treatment VA is associated with a good visual outcome.
背景:与白种人相比,亚洲人群中息肉样脉络膜血管病变(PCV)的患病率明显更高,而且有关白种人患者临床结局的证据有限。目的:本回顾性研究旨在探讨白种人PCV患者接受polypoidal verteporfin光动力疗法(PDT)联合抗vegf治疗后长达36个月的真实临床结果。方法:纳入2011年至2017年连续接受PDT治疗的PCV患者。ETDRS字母评分测量的平均视力变化(VA)和中心子野厚度的平均变化(CST)是主要的结局指标。在基线、3、12、24和36个月收集数据。对治疗前的临床特征进行回归分析,以确定是否有任何因素与良好的视觉结果相关(12个月时ETDRS评分大于或等于70)。结果:76例患者(96%为白种人)和78只眼纳入分析。在12、24和36个月时,VA的平均变化分别为-1、-4和0个ETDRS字母。在12个月、24个月和36个月时,CST分别平均减少了-51、-54和-55微米。较好的术前VA是唯一与12个月时良好视力结果相关的术前临床特征(OR 1.16, p<0.001)。结论:PDT联合抗vegf治疗可维持白种人PCV患者的VA,并可能减轻抗vegf治疗负担。较好的术前VA与良好的视觉结果相关。
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Open Ophthalmology Journal
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