Retinal imaging

视网膜成像
  • 文章类型: Journal Article
    慢性肾脏病(CKD)是一个重要的全球健康问题,强调早期发现的必要性,以促进及时的临床干预。利用视网膜的独特能力提供对全身血管健康的见解,它变得很有趣,早期CKD检测的非侵入性选择。将这种方法与现有的侵入性方法相结合,可以全面了解患者的健康状况。提高诊断的准确性和治疗的有效性。
    这篇综述的目的是批判性地评估视网膜成像作为基于视网膜血管变化的CKD检测的诊断工具的潜力。该评论跟踪了从传统的手动评估到最新的深度学习的演变。
    对文献进行了全面审查,使用有针对性的数据库搜索和三步方法进行文章评估:识别,筛选,以及基于Prisma指南的包容性。重点是关于视网膜成像检测CKD的独特和新的研究。最初发现的457种出版物总共有70种,符合我们的纳入标准,因此进行了分析。在包括的70项研究中,35例糖尿病视网膜病变与CKD的相关性,23以通过视网膜成像检测CKD为中心,四个人试图通过人工智能和视网膜成像的结合来自动化检测。
    显著的视网膜特征,如小动脉狭窄,静脉扩张,特定的视网膜病变标志物(如微动脉瘤,出血,和渗出物),动静脉比值(AVR)的变化与CKD进展密切相关。我们还发现,将深度学习与视网膜成像相结合用于CKD检测可以提供非常有前途的途径。因此,通过这种技术利用视网膜成像有望提高CKD检测系统的精度和预后能力,提供一种可以改变患者护理实践的非侵入性诊断替代方案。
    总之,视网膜成像作为CKD的诊断工具具有很高的潜力,因为它是非侵入性的,通过可观察的微血管变化促进早期检测,提供肾脏健康的预测性见解,and,当与深度学习算法配对时,提高CKD筛查的准确性和有效性。
    UNASSIGNED: Chronic kidney disease (CKD) is a significant global health concern, emphasizing the necessity of early detection to facilitate prompt clinical intervention. Leveraging the unique ability of the retina to offer insights into systemic vascular health, it emerges as an interesting, non-invasive option for early CKD detection. Integrating this approach with existing invasive methods could provide a comprehensive understanding of patient health, enhancing diagnostic accuracy and treatment effectiveness.
    UNASSIGNED: The purpose of this review is to critically assess the potential of retinal imaging to serve as a diagnostic tool for CKD detection based on retinal vascular changes. The review tracks the evolution from conventional manual evaluations to the latest state-of-the-art in deep learning.
    UNASSIGNED: A comprehensive examination of the literature was carried out, using targeted database searches and a three-step methodology for article evaluation: identification, screening, and inclusion based on Prisma guidelines. Priority was given to unique and new research concerning the detection of CKD with retinal imaging. A total of 70 publications from 457 that were initially discovered satisfied our inclusion criteria and were thus subjected to analysis. Out of the 70 studies included, 35 investigated the correlation between diabetic retinopathy and CKD, 23 centered on the detection of CKD via retinal imaging, and four attempted to automate the detection through the combination of artificial intelligence and retinal imaging.
    UNASSIGNED: Significant retinal features such as arteriolar narrowing, venular widening, specific retinopathy markers (like microaneurysms, hemorrhages, and exudates), and changes in arteriovenous ratio (AVR) have shown strong correlations with CKD progression. We also found that the combination of deep learning with retinal imaging for CKD detection could provide a very promising pathway. Accordingly, leveraging retinal imaging through this technique is expected to enhance the precision and prognostic capacity of the CKD detection system, offering a non-invasive diagnostic alternative that could transform patient care practices.
    UNASSIGNED: In summary, retinal imaging holds high potential as a diagnostic tool for CKD because it is non-invasive, facilitates early detection through observable microvascular changes, offers predictive insights into renal health, and, when paired with deep learning algorithms, enhances the accuracy and effectiveness of CKD screening.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    视网膜是一个脆弱的结构,经常受到不同的系统条件的影响。系统性视网膜损伤的主要机制是视网膜神经元的原发性损伤,局部脉管系统的改变,或者两者兼而有之。这种脆弱性使视网膜成为反映先前存在的系统性疾病严重程度的重要窗口。因此,目前的成像技术旨在识别与系统异常相关的早期视网膜变化,以建立预期的诊断并开始适当的治疗。人工智能(AI)已成为医学领域的高度趋势技术之一。它的传播继续扩展到包括眼科在内的不同专业。许多研究表明,这种技术在系统性疾病背景下有助于筛查视网膜异常的潜力。在这次审查中,我们进行了广泛的文献检索,以确定支持AI/深度学习用于通过视网膜成像诊断系统性疾病的有效性的最重要的研究.强调了这些技术在基于视网膜的全身性病症诊断领域中的实用性。
    The retina is a vulnerable structure that is frequently affected by different systemic conditions. The main mechanisms of systemic retinal damage are either primary insult of neurons of the retina, alterations of the local vasculature, or both. This vulnerability makes the retina an important window that reflects the severity of the preexisting systemic disorders. Therefore, current imaging techniques aim to identify early retinal changes relevant to systemic anomalies to establish anticipated diagnosis and start adequate management. Artificial intelligence (AI) has become among the highly trending technologies in the field of medicine. Its spread continues to extend to different specialties including ophthalmology. Many studies have shown the potential of this technique in assisting the screening of retinal anomalies in the context of systemic disorders. In this review, we performed extensive literature search to identify the most important studies that support the effectiveness of AI/deep learning use for diagnosing systemic disorders through retinal imaging. The utility of these technologies in the field of retina-based diagnosis of systemic conditions is highlighted.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Systematic Review
    本研究旨在回顾当前文献,探讨无创眼部成像在诊断外周动脉疾病(PAD)中的实用性。我们的搜索是在2022年4月初进行的,包括Medline数据库,Scopus,Embase,科克伦,和其他人。最终审查中包括五篇文章。在PAD中使用眼部成像的五项研究中,两项研究使用视网膜彩色眼底摄影,一个使用光学相干断层扫描(OCT),和两个使用光学相干断层扫描血管造影(OCTA)来评估PAD的眼部变化。PAD与视网膜的结构和功能变化有关。与健康个体相比,在PAD患者的彩色眼底摄影中可以看到视盘和颞叶视网膜血管拱廊周围的结构改变。视网膜出血的存在,分泌物,彩色眼底照片中的微动脉瘤与PAD的未来风险增加有关,尤其是这种疾病的严重形式。与OCT中年龄匹配的健康个体相比,PAD患者的鼻象限中的视网膜神经纤维层(RNFL)显着变薄。同样,与对照组相比,PAD患者中心凹下区域的脉络膜厚度明显变薄.与健康对照相比,患有PAD的患者在OCTA中的视网膜和脉络膜循环也显著减少。由于PAD导致视网膜血管变薄和缺血性变化,使用视网膜成像技术检查视网膜血管可以提供有关PAD早期微血管损伤的有用信息。眼部成像可能作为PAD的生物标志物。
    This study aimed to review the current literature exploring the utility of noninvasive ocular imaging for the diagnosis of peripheral artery disease (PAD). Our search was conducted in early April 2022 and included the databases Medline, Scopus, Embase, Cochrane, and others. Five articles were included in the final review. Of the five studies that used ocular imaging in PAD, two studies used retinal color fundus photography, one used optical coherence tomography (OCT), and two used optical coherence tomography angiography (OCTA) to assess the ocular changes in PAD. PAD was associated with both structural and functional changes in the retina. Structural alterations around the optic disc and temporal retinal vascular arcades were seen in color fundus photography of patients with PAD compared to healthy individuals. The presence of retinal hemorrhages, exudates, and microaneurysms in color fundus photography was associated with an increased future risk of PAD, especially the severe form of the disease. The retinal nerve fiber layer (RNFL) was significantly thinner in the nasal quadrant in patients with PAD compared to age-matched healthy individuals in OCT. Similarly, the choroidal thickness in the subfoveal region was significantly thinner in patients with PAD compared to controls. Patients with PAD also had a significant reduction in the retinal and choroidal circulation in OCTA compared to healthy controls. As PAD causes thinning and ischemic changes in retinal vessels, examination of the retinal vessels using retinal imaging techniques can provide useful information about early microvascular damage in PAD. Ocular imaging could potentially serve as a biomarker for PAD. PROSPERO ID: CRD42022310637.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Review
    目的:报道一例脊柱手术后单侧视网膜中央动脉阻塞(CRAO)的罕见病例。
    方法:观察性病例报告。
    结果:一名15岁女性患者在俯卧位全身麻醉下接受了脊柱侧凸手术,她的头被马蹄形头枕支撑了大约四个小时,具有稳定的生命体征,并且在手术过程中没有明显的失血。从全身麻醉中醒来后,患者立即报告右眼(RE)严重视力丧失,与明显的眼周瘀斑和化学有关。视敏度仅限于光感。眼底检查显示视盘外观正常,伴有弥漫性视网膜苍白和黄斑樱桃红色斑点。光学相干断层扫描(OCT)显示内部视网膜的反射率增加,与RE的缺血性黄斑病变一致。脑和颈部磁共振成像血管造影照片无明显变化。进一步的调查排除了胶原血管疾病,Behcet病,梅毒,镰状细胞病和高凝状态。
    结论:脊柱手术后很少观察到视网膜中央动脉阻塞。据推测,原因是由于手术过程中位置的意外偏移,马蹄形头枕在俯卧位中压缩了轨道。这种灾难性的并发症,虽然罕见,通常是不可逆转的,因此必须加以预防。手术期间外科医生和麻醉师的正确定位和警惕是确保轨道不处于压力下的基础。
    OBJECTIVE: To report a rare case of unilateral central retinal artery occlusion (CRAO) following spinal surgery.
    METHODS: Observational case report.
    RESULTS: A 15-year-old female patient underwent scoliosis surgery under general anesthesia in a prone position, her head being supported by a horseshoe headrest for approximately four hours, with stable vitals and without significant blood loss during surgery. Upon waking up from general anesthesia, the patient immediately reported severe visual loss in her right eye (RE), associated to marked periocular ecchymosis and chemosis. Visual acuity was limited to light perception. Fundus examination showed normal optic disc appearance with diffuse retinal pallor and a macular cherry red spot. Optical coherence tomography (OCT) showed increased reflectivity in the inner retina, consistent with ischemic maculopathy in the RE. Brain and neck magnetic resonance imaging angiograms were unremarkable. Further investigations ruled out collagen vascular disease, Behcet disease, syphilis, sickle cell disease and hypercoagulable states.
    CONCLUSIONS: Central retinal artery occlusion is rarely observed following spinal surgery. The cause was presumed to be compression of the orbit by a horseshoe headrest in a prone position due to an accidental shift in position during surgery. This catastrophic complication, albeit rare, is usually irreversible and thus must be prevented. Proper positioning and vigilance by both the surgeon and the anesthesiologist during surgery are fundamental to ensure that the orbits are not under pressure.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    我详细介绍了集成智能手机的fundoucopy诊断系统的进展。智能手机眼底复印设备由与智能手机和软件应用程序连接的镜头设备组成,用于移动视网膜图像捕获和糖尿病视网膜病变的诊断。这对于在偏远和农村地区自动化和动员视网膜病变筛查技术和方法是特别有益的,因为那些糖尿病患者通常不满足糖尿病性视网膜病变所需的常规筛查。智能手机视网膜图像分级系统使视网膜病变能够作为远程眼科或作为独立的护理点测试系统进行远程筛查。智能手机眼底旨在避免需要眼科医生为患者看病,这可以减少病人的旅行,处理图像所需的时间,约会积压,卫生服务间接费用和眼科医生的工作量负担。
    I detail advances in funduscopy diagnostic systems integrating smartphones. Smartphone funduscopy devices are comprised of lens devices connecting with smartphones and software applications to be used for mobile retinal image capturing and diagnosis of diabetic retinopathy. This is particularly beneficial to automate and mobilize retinopathy screening techniques and methods in remote and rural areas as those diabetes patients are often not meeting the required regular screening for diabetic retinopathy. Smartphone retinal image grading systems enable retinopathy to be screened remotely as teleophthalmology or as a stand-alone point-of-care-testing system. Smartphone funduscopy aims to avoid the need for patients to be seen by expert ophthalmologists, which can reduce patient travel, time taken for images to be processed, appointment backlog, health service overhead costs, and the workload burden for expert ophthalmologists.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    自适应光学(AO)成像可实现直接、目的评估视网膜细胞。AO的应用在促进我们对遗传性视网膜疾病(IRD)病因的理解和发现新的成像生物标志物方面显示出巨大的希望。本范围综述系统地确定并总结了评估IRD中AO成像的临床研究。2023年2月6日搜索了OvidMEDLINE和EMBASE。包括描述单基因IRD中AO成像的研究。研究筛选和数据提取由2名评审员独立进行。这篇综述介绍:1)对主要研究领域的广泛概述;2)AO成像揭示的IRD特征摘要;3)讨论与IRD中AO成像有关的方法学考虑。从140项具有AO结果的研究中,包括两个随后的视网膜下基因治疗治疗,75%包括少于10名具有AO成像数据的参与者。在包括参与者基因诊断的100项研究中,与AO结果最常见的IRD基因是CNGA3,CNGB3,CHM,USH2A,ABCA4共聚焦反射AO扫描激光检眼镜是报道最多的成像模式,其次是洪水照明AO和分裂探测器AO。最常见的结果是视锥密度,在56%的研究中定量报道。未来的研究领域包括减少AO方法报告中的变异性的指南,以及对功能性AO技术的关注,以指导治疗干预措施的发展。
    Adaptive optics (AO) imaging enables direct, objective assessments of retinal cells. Applications of AO show great promise in advancing our understanding of the etiology of inherited retinal disease (IRDs) and discovering new imaging biomarkers. This scoping review systematically identifies and summarizes clinical studies evaluating AO imaging in IRDs. Ovid MEDLINE and EMBASE were searched on February 6, 2023. Studies describing AO imaging in monogenic IRDs were included. Study screening and data extraction were performed by 2 reviewers independently. This review presents (1) a broad overview of the dominant areas of research; (2) a summary of IRD characteristics revealed by AO imaging; and (3) a discussion of methodological considerations relating to AO imaging in IRDs. From 140 studies with AO outcomes, including 2 following subretinal gene therapy treatments, 75% included fewer than 10 participants with AO imaging data. Of 100 studies that included participants\' genetic diagnoses, the most common IRD genes with AO outcomes are CNGA3, CNGB3, CHM, USH2A, and ABCA4. Confocal reflectance AO scanning laser ophthalmoscopy was the most reported imaging modality, followed by flood-illuminated AO and split-detector AO. The most common outcome was cone density, reported quantitatively in 56% of studies. Future research areas include guidelines to reduce variability in the reporting of AO methodology and a focus on functional AO techniques to guide the development of therapeutic interventions.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Systematic Review
    逆向扫描激光检眼镜成像(RM-SLO)捕获眼底的伪3维图像。RM-SLO于2008年首次使用NidekF-10扫描激光检眼镜(F-10;Nidek,Gamagori,日本)。当时,没有描述这种成像模式的主要作用.随着结合了SLO和光学相干断层扫描的Mirante的出现,对RM-SLO的兴趣正在重新出现(NidekCo.,Gamagori,日本)可以捕获眼底的逆行图像。我们总结了使用NidekF-10和Mirante在视网膜疾病中进行逆行成像的发现和临床意义,目的是帮助研究人员指导他们的未来研究。
    Retromode scanning laser ophthalmoscopy imaging captures a pseudo-3-dimensional image of the ocular fundus. Retromode scanning laser ophthalmoscopy imaging was introduced first in 2008 using the Nidek F-10 scanning laser ophthalmoscope (F-10; Nidek Co., Gamagori, Japan). At that time, no major role was described for this imaging modality. The interest in retromode scanning laser ophthalmoscopy imaging is reemerging with the recent advent of the Mirante that combines scanning laser ophthalmoscopy and optical coherence tomography (Nidek Co., Gamagori, Japan) that can capture retromode images of the fundus. We summarize the findings and clinical implications of retromode imaging using the Nidek F-10 and the Mirante in retinal diseases with the aim of helping researchers direct their future studies.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    我们对视网膜成像参数与阿尔茨海默病(AD)之间的关联进行了系统评价和荟萃分析。
    PubMed,EMBASE,和Scopus被系统地搜索前瞻性和观察性研究。纳入的研究具有基于脑淀粉样β(Aβ)状态的AD病例定义。进行研究质量评估。标准化均值差异的随机效应荟萃分析,相关性,并进行了诊断准确性。
    纳入了38项研究。在光学相干断层扫描(OCT)上,乳头状周围视网膜神经纤维层变薄的证据薄弱(p=0.14,11项研究,n=828),OCT血管造影术上中央凹无血管区面积增加(p=0.18,四项研究,n=207),眼底照相时小动脉和小静脉血管分形维数降低(分别为p<0.001和p=0.08,三项研究,AD病例中n=297)。
    视网膜成像参数似乎与AD相关。成像方法和报告中的小研究规模和异质性使得难以确定这些变化作为AD生物标志物的效用。
    我们对视网膜成像和阿尔茨海默病(AD)进行了系统评价。我们仅纳入了基于脑淀粉样蛋白β状态的病例研究。几种视网膜生物标志物与AD相关,但临床应用尚不确定。研究应集中于生物标志物定义的AD,并使用标准化的成像方法。
    UNASSIGNED: We performed a systematic review and meta-analysis of the association between retinal imaging parameters and Alzheimer\'s disease (AD).
    UNASSIGNED: PubMed, EMBASE, and Scopus were systematically searched for prospective and observational studies. Included studies had AD case definition based on brain amyloid beta (Aβ) status. Study quality assessment was performed. Random-effects meta-analyses of standardized mean difference, correlation, and diagnostic accuracy were conducted.
    UNASSIGNED: Thirty-eight studies were included. There was weak evidence of peripapillary retinal nerve fiber layer thinning on optical coherence tomography (OCT) (p = 0.14, 11 studies, n = 828), increased foveal avascular zone area on OCT-angiography (p = 0.18, four studies, n = 207), and reduced arteriole and venule vessel fractal dimension on fundus photography (p < 0.001 and p = 0.08, respectively, three studies, n = 297) among AD cases.
    UNASSIGNED: Retinal imaging parameters appear to be associated with AD. Small study sizes and heterogeneity in imaging methods and reporting make it difficult to determine utility of these changes as AD biomarkers.
    UNASSIGNED: We performed a systematic review on retinal imaging and Alzheimer\'s disease (AD).We only included studies in which cases were based on brain amyloid beta status.Several retinal biomarkers were associated with AD but clinical utility is uncertain.Studies should focus on biomarker-defined AD and use standardized imaging methods.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    这篇综述概述了羟氯喹(HCQ)视网膜病变的常规和新型视网膜成像方式。HCQ视网膜病变是由HCQ用于各种自身免疫性疾病引起的毒性视网膜病变的一种形式。如类风湿性关节炎和系统性红斑狼疮。每种成像模式检测HCQ视网膜病变的不同方面,并显示出结构变化的独特补充。传统上,频域光学相干层析成像(SD-OCT),这表明外视网膜和/或视网膜色素上皮-布鲁赫膜复合物的损失或衰减,和眼底自发荧光(FAF),显示旁凹或中央异常,用于评估HCQ视网膜病变。此外,OCT的几种变化(视网膜和脉络膜厚度测量,脉络膜血管分布指数,宽场OCT,恩面部成像,最小强度分析,和人工智能技术)和FAF技术(定量FAF,近红外FAF,荧光寿命成像检眼镜,和宽场FAF)已用于评估HCQ视网膜病变。正在研究用于早期检测HCQ视网膜病变的其他新型视网膜成像技术包括OCT血管造影,多色成像,自适应光学,和逆行成像,尽管验证需要进一步测试。
    This review provides an overview of conventional and novel retinal imaging modalities for hydroxychloroquine (HCQ) retinopathy. HCQ retinopathy is a form of toxic retinopathy resulting from HCQ use for a variety of autoimmune diseases, such as rheumatoid arthritis and systemic lupus erythematosus. Each imaging modality detects a different aspect of HCQ retinopathy and shows a unique complement of structural changes. Conventionally, spectral-domain optical coherence tomography (SD-OCT), which shows loss or attenuation of the outer retina and/or retinal pigment epithelium-Bruch\'s membrane complex, and fundus autofluorescence (FAF), which shows parafoveal or pericentral abnormalities, are used to assess HCQ retinopathy. Additionally, several variations of OCT (retinal and choroidal thickness measurements, choroidal vascularity index, widefield OCT, en face imaging, minimum intensity analysis, and artificial intelligence techniques) and FAF techniques (quantitative FAF, near-infrared FAF, fluorescence lifetime imaging ophthalmoscopy, and widefield FAF) have been applied to assess HCQ retinopathy. Other novel retinal imaging techniques that are being studied for early detection of HCQ retinopathy include OCT angiography, multicolour imaging, adaptive optics, and retromode imaging, although further testing is required for validation.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    干燥-拉尔森综合征(SLS)是一种罕见的,常染色体隐性神经皮肤疾病。它是由ALDH3A2基因中序列变异的遗传引起的,编码脂肪醛脱氢酶(FALDH)。这种情况的普遍迹象是先天性鱼鳞病,下肢和上肢的痉挛性轻瘫,智力下降。除了这个临床三合会,SLS患者出现由进行性视网膜变性引起的干眼症和视力下降.SLS患者的视网膜检查通常会发现中央凹周围闪闪发光的黄色晶体状沉积物。这种晶体视网膜病通常在儿童时期发展,被认为是该病的病理标志。代谢紊乱通常将寿命缩短到未受影响人群的一半。然而,现在SLS患者的寿命更长了,了解疾病的自然过程变得越来越重要。我们的病例描述了一名58岁的患有晚期SLS的女性,其眼科检查说明了视网膜变性的末期。光学相干断层扫描(OCT)和荧光素血管造影证实,该疾病仅限于神经视网膜,黄斑急剧变薄。这种情况是独特的,因为它在年龄和视网膜疾病的严重程度方面都是最先进的。而脂肪醛的积累,酒精,和其他前体分子是视网膜毒性的可能原因,对视网膜变性过程的更全面了解可能有助于未来治疗的发展。我们介绍这种情况的目的是提高对这种疾病的认识,并培养对治疗研究的兴趣,这可能使患有这种罕见疾病的患者受益。
    干燥-拉尔森综合征的眼部问题干燥-拉尔森综合征(SLS)是一种罕见的,影响皮肤和神经系统的遗传性疾病。它是由控制脂肪在体内分解方式的基因变异引起的。这种疾病的三个关键症状是(1)脱皮,皮肤干燥;(2)肌肉僵硬和手臂和腿的运动受损;(3)智力下降。大多数症状在出生后不久出现。基因检测和咨询服务可以帮助患者及其家人了解SLS的期望。照顾SLS患者需要神经学家和物理治疗师等专家的团队合作。因为眼睛问题很常见,眼科医生的早期咨询也很重要。眼睛检查也可以确认SLS的诊断。SLS经常导致眼睛出现红色,感觉干燥,或者变得恼火。这使得在明亮的光线下很难看到。夜间视力下降也很常见。这是由视网膜中央部分的逐渐丧失引起的,需要看到精细的细节。因为SLS缩短了寿命,很少有人到达疾病的最后阶段。随着SLS患者的寿命延长,正如我们案例研究中的个人所说明的那样,了解疾病的进展变得很重要。不幸的是,目前还没有恢复视力的治疗方法。然而,可以采取一些保护措施。儿童早期的眼科检查对于防止眼睛损伤很重要。戴眼镜可以改善视力,以及保护眼睛免受意外伤害或跌倒。眼药水可以缓解眼睛干涩,太阳镜可以减少眩光和对光的敏感性。在未来,基因治疗可用于治疗SLS。
    Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive neurocutaneous disorder. It is caused by the inheritance of sequence variants in the ALDH3A2 gene, which codes for fatty aldehyde dehydrogenase (FALDH). Universal signs of the condition are congenital ichthyosis, spastic paresis of the lower and upper limbs, and reduced intellectual ability. In addition to this clinical triad, patients with SLS experience dry eyes and decreased visual acuity caused by a progressive retinal degeneration. Examination of the retina in patients with SLS often reveals glistening yellow crystal-like deposits surrounding the fovea. This crystalline retinopathy often develops in childhood and is considered pathognomonic for the disease. The metabolic disorder typically shortens lifespan to half that of the unaffected population. However, now that patients with SLS live longer, it becomes increasingly important to understand the natural course of the disease. Our case describes a 58-year-old woman with advanced SLS whose ophthalmic examination illustrates the end-stage of the retinal degeneration. Optical coherence tomography (OCT) and fluorescein angiography confirm the disease is restricted to the neural retina with dramatic thinning of the macula. This case is unique since it is among the most advanced both in terms of chronological age and severity of retinal disease. While the accumulation of fatty aldehydes, alcohols, and other precursor molecules is the probable cause of retinal toxicity, a more complete understanding of the course of retinal degeneration may aid in the development of future treatments. The aim of our presentation of this case is to increase awareness of the disease and to foster interest in therapeutic research which may benefit patients with this rare condition.
    Eye issues in Sjogren-Larsson Syndrome Sjögren-Larsson syndrome (SLS) is a rare, inherited condition that affects the skin and nervous system. It is caused by variations in a gene that controls the way fats are broken down in the body. The three key signs of the disease are (1) peeling, dry skin; (2) muscle stiffness and impaired movement of the arms and legs; and (3) reduced intellectual ability. Most signs of the condition appear shortly after birth. Genetic testing and counseling services can help patients and their families to understand what to expect with SLS. Caring for people with SLS requires teamwork by specialists like neurologists and physical therapists. Because eye problems are common, the early consultation of an eye doctor is also important. An eye examination can also confirm the diagnosis of SLS. SLS often causes the eyes to appear red, feel dry, or become irritated. This can make it hard to see in bright light. Decreased vision at night is also common. This is caused by the progressive loss of the central part of the retina which is needed to see fine details. Because SLS shortens lifespan, it is rare for anyone to reach the final stages of the disease. As patients with SLS are living longer, as illustrated by the individual in our case study, it becomes important to understand how the disease progresses. Unfortunately, treatments to restore vision are not yet available. Nevertheless, some protective measures can be taken. Eye examinations in early childhood are important for preventing damage to the eyes. Wearing glasses can improve vision, as well as protect eyes from accidental injury or falls. Eye drops can provide relief from dry eyes, and sunglasses can reduce glare and sensitivity to light. In the future, gene therapy may be used to treat SLS.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

公众号