blepharoptosis

上睑下垂
  • 文章类型: Journal Article
    记录的由中脑梗塞引起的同侧下垂病例仍然很少见。在这里,我们介绍了一例孤立的同侧上睑下垂患者,最初被认为是重症肌无力的结果,但随后被归因于腹侧中脑梗塞.我们还讨论了可能的潜在机制;我们患者的同侧上睑下垂归因于动眼神经提上睑肌分支的选择性损伤。患者开始服用阿司匹林(200mg,每日一次)和阿托伐他汀(40mg,每日一次)。从入院第5天开始出现上睑下垂改善,患者随后出院。发病1个月后眼睑消失。本报告描述了极为罕见的腹侧中脑梗塞病例,表现为孤立的同侧下垂。仔细检查,包括磁共振成像,对这类病人来说是必不可少的,尤其是那些有多种脑血管危险因素的人。
    Documented cases of ipsilateral ptosis caused by midbrain infarction remain rare. Herein, we present a patient with isolated ipsilateral ptosis that was initially considered to be a consequence of myasthenia gravis but was subsequently attributed to ventral midbrain infarction. We also discuss the possible underlying mechanisms; ipsilateral ptosis in our patient was attributed to selective damage of the levator palpebral muscle branch of the oculomotor nerve. The patient was started on aspirin (200 mg once daily) and atorvastatin (40 mg once daily). Improvement in ptosis occurred from day 5 of admission, and the patient was subsequently discharged. Ptosis disappeared 1 month after onset. This report describes an extremely rare case of ventral midbrain infarction presenting with isolated ipsilateral ptosis. Careful examination, including magnetic resonance imaging, is essential in such patients, especially in those with multiple cerebrovascular risk factors.
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  • 文章类型: Journal Article
    背景:结膜脱垂(CP)是一种罕见但具有挑战性的疾病,在最大提上肌切除术(MLR)和其他广泛的眶周手术后。经常进行超出Whitnall韧带的MLR,以解决严重的上睑下垂功能(LF)差。CP患者可能会出现眼部不适等症状,撕裂,视力障碍,持续性结膜化学,眼球,或暴露性角膜病变。通常,如果保守措施被证明是无效的,手术干预是必要的;然而,关于最佳治疗方法尚无共识。
    目的:本研究旨在提出一种简单的无缝线直接切除方法,并通过系统评价探讨CP矫正的手术进展。
    方法:本研究纳入了在三级医院使用放大镜无缝线直接切除结膜的MLR后复发性CP患者。记录临床进展和手术结果。PubMed,MEDLINE,EMBASE,根据系统审查和荟萃分析(PRISMA)协议的首选报告项目查询和WebofScience数据库。
    结果:对1858篇文章的综合分析确定了24项研究中的88名患者,强调上睑下垂手术主要与CP相关(36.6%)。与保守治疗的患者相比,手术治疗的CP显示出更高的分辨率(54.8%vs.45.2%;p=0.034)。在长期随访中,接受无缝线直接切除CP治疗的患者未观察到复发。
    结论:我们提出了一种简单的无缝线直接切除技术,为治疗CP提供了一种直接有效的方法,这特别适用于在MLR期间需要切除长度>16mm的情况。此外,手术后可以避免拆线。
    BACKGROUND: Conjunctival prolapse (CP) is an uncommon but challenging condition following maximal levator resection (MLR) and other extensive periorbital procedures. MLR extending beyond the Whitnall\'s ligament is frequently performed to address severe blepharoptosis with poor levator function (LF). Patients with CP may encounter symptoms such as ocular discomfort, tearing, vision impairment, persistent conjunctival chemosis, lagophthalmos, or exposure keratopathy. Typically, surgical intervention becomes necessary if conservative measures prove to be ineffective; nevertheless, there is no consensus regarding the optimal treatment approach.
    OBJECTIVE: This study aimed to propose a simple sutureless direct excision method and explore the surgical advancements in CP correction through a systematic review.
    METHODS: Patients with recurrent CP after MLR who underwent sutureless direct excision of the conjunctiva using loupe magnifiers at a tertiary hospital were included in this study. The clinical evolution and surgical results were recorded. PubMed, MEDLINE, EMBASE, and Web of Science databases were queried following The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) protocol.
    RESULTS: The comprehensive analysis of 1858 articles identified 88 patients from 24 studies, highlighting that blepharoptosis surgery is predominantly associated with CP (36.6%). Surgically treated CP showed a higher resolution rate compared to those managed conservatively (54.8% vs. 45.2%; p = 0.034). No relapse was observed in patients treated with sutureless direct excision of CP in long-term follow-up.
    CONCLUSIONS: We proposed a simple sutureless direct excision technique that offers a straightforward and efficient approach in treating CP, which is particularly suitable for cases requiring excision lengths >16 mm during MLR. Furthermore, stitch removal can be obviated after surgery.
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  • 文章类型: Journal Article
    背景:对非手术面部年轻化选择的需求正在增长,然而,眶周区域仍然是一个相对未满足需求的区域。这篇综述探讨了面部年轻化的非手术选择以及盐酸羟甲唑啉眼用溶液的作用,0.1%,治疗年龄相关性上睑下垂作为眶周恢复的一部分。
    方法:在面部年轻化方面有经验的顾问开会,讨论有关上面部和眶周年轻化的现有文献以及盐酸羟甲唑啉眼用溶液的作用,0.1%,在治疗面部老化。
    结果:存在一系列非手术选择来解决衰老的迹象,包括微创治疗,如肉毒杆菌毒素注射和皮肤填充剂,和非侵入性治疗,比如激光,化学果皮,和微晶换肤术.然而,在眶周恢复中治疗年龄相关性上睑下垂主要通过手术解决。新批准的α-肾上腺素受体激动剂盐酸羟甲唑啉眼用溶液,0.1%,提供了一种新的非介入性方法来治疗上睑下垂。
    结论:在大流行后时代,面部年轻化非常受欢迎。每种非手术治疗方案都有其优点和缺点。以患者为中心的方法是必要的,以选择适当的程序考虑患者的关注和审美敏感性。眼睛是患者首要关注的领域,然而手术是治疗上睑下垂的黄金标准。盐酸羟甲唑啉眼用溶液,0.1%,是一种安全有效的非手术治疗方法。
    BACKGROUND: The demand for nonsurgical facial rejuvenation options is growing, yet the periorbital region remains an area of relative unmet need. This review explores nonsurgical options for facial rejuvenation and the role of oxymetazoline hydrochloride ophthalmic solution, 0.1%, in treating age-related blepharoptosis as part of periorbital rejuvenation.
    METHODS: Advisors experienced in facial rejuvenation met to discuss existing literature on the upper face and periorbital rejuvenation and the role of oxymetazoline hydrochloride ophthalmic solution, 0.1%, in treating facial aging.
    RESULTS: An array of nonsurgical options exist to address the signs of aging, including minimally invasive treatments, such as botulinum toxin injections and dermal fillers, and noninvasive therapy, such as lasers, chemical peels, and microdermabrasion. However, treating age-related ptosis in periorbital rejuvenation is mainly addressed surgically. The newly approved α-adrenergic receptor agonist oxymetazoline hydrochloride ophthalmic solution, 0.1%, provides a novel non-interventional approach to blepharoptosis.
    CONCLUSIONS: Facial rejuvenation is highly sought-after in this post-pandemic era. Each nonsurgical treatment option has its advantages and drawbacks. A patient-centered approach is necessary to select the appropriate procedure considering the patient\'s concerns and aesthetic sensibilities. The eyes are an area of primary concern for patients, yet surgery is the gold standard for treating ptosis. Oxymetazoline hydrochloride ophthalmic solution, 0.1%, is a safe and effective nonsurgical treatment for blepharoptosis.
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  • 文章类型: Journal Article
    上眼睑是一种位置异常低的上眼睑。管理取决于严重程度,病因学,和提上掌肌(LPS)的功能。这篇综述评估了自体筋膜吊索(AFLS)在上睑下垂手术治疗中的成功。并发症和再手术/翻修率。在PubMed上进行了文献检索,谷歌学者PROSPERO,dynamed,DARE,EMBASE,科克伦,和BMJ数据库(PROSPERO注册:CRD42023475090),纳入30项研究(3690例患者和5059只眼)。患者的平均年龄为14.2岁,男女比例为1:0.7。共有2532只眼进行了带自体筋膜的筋膜吊带。平均随访时间32.6个月。筋膜吊带手术的反射距离1(MR1)边缘改善为2.79mm。涉及自体阔筋膜的手术并发症发生率为21.3%。最常见的并发症包括眩眼(19.8%),残余下垂(11.5%),和角膜损伤(10.4%)。再次手术率为13.4%。再手术最常见的适应症是美容,不对称(18%),眼睑折痕异常(30%),和上眼睑修剪(18%)。AFLS患者的总并发症发生率为20%(95%CI:6至35,p<0.01;I2=89%),而非AFLS患者为27%(95%CI:14至40,p<0.01;I2=90%)。AFLS在上睑下垂的手术治疗中是谨慎的。这篇综述的结果表明,与其他传统技术相比,它们的使用与相似的并发症发生率相关,但重复手术较少。上眼睑是一种位置异常低的上眼睑。管理取决于严重程度,病因学,和提上掌肌(LPS)的功能。这篇综述评估了自体筋膜吊索(AFLS)在上睑下垂手术治疗中的成功。并发症和再手术/翻修率。在PubMed上进行了文献检索,谷歌学者PROSPERO,dynamed,DARE,EMBASE,科克伦,和BMJ数据库(PROSPERO注册:CRD42023475090),纳入30项研究(3690例患者和5059只眼)。患者的平均年龄为14.2岁,男女比例为1:0.7。共有2532只眼进行了带自体筋膜的筋膜吊带。平均随访时间32.6个月。筋膜吊带手术的反射距离1(MR1)边缘改善为2.79mm。涉及自体阔筋膜的手术并发症发生率为21.3%。最常见的并发症包括眩眼(19.8%),残余下垂(11.5%),和角膜损伤(10.4%)。再次手术率为13.4%。再手术最常见的适应症是美容,不对称(18%),眼睑折痕异常(30%),和上眼睑修剪(18%)。AFLS患者的总并发症发生率为20%(95%CI:6至35,p<0.01|上眼睑异常低位。管理取决于严重程度,病因学,和提上掌肌(LPS)的功能。这篇综述评估了自体筋膜吊索(AFLS)在上睑下垂手术治疗中的成功。并发症和再手术/翻修率。在PubMed上进行了文献检索,谷歌学者PROSPERO,dynamed,DARE,EMBASE,科克伦,和BMJ数据库(PROSPERO注册:CRD42023475090),纳入30项研究(3690例患者和5059只眼)。患者的平均年龄为14.2岁,男女比例为1:0.7。共有2532只眼进行了带自体筋膜的筋膜吊带。平均随访时间32.6个月。筋膜吊带手术的反射距离1(MR1)边缘改善为2.79mm。涉及自体阔筋膜的手术并发症发生率为21.3%。最常见的并发症包括眩眼(19.8%),残余下垂(11.5%),和角膜损伤(10.4%)。再次手术率为13.4%。再手术最常见的适应症是美容,不对称(18%),眼睑折痕异常(30%),和上眼睑修剪(18%)。AFLS患者的总并发症发生率为20%(95%CI:6至35,p<0.01;I=89%),而非AFLS患者为27%(95%CI:14至40,p<0.01;I2=90%)。AFLS在上睑下垂的手术治疗中是谨慎的。这篇综述的结果表明,与其他传统技术相比,它们的使用与相似的并发症发生率相关,但重复手术较少。上眼睑是一种位置异常低的上眼睑。管理取决于严重程度,病因学,和提上掌肌(LPS)的功能。这篇综述评估了自体筋膜吊索(AFLS)在上睑下垂手术治疗中的成功。并发症和再手术/翻修率。在PubMed上进行了文献检索,谷歌学者PROSPERO,dynamed,DARE,EMBASE,科克伦,和BMJ数据库(PROSPERO注册:CRD42023475090),纳入30项研究(3690例患者和5059只眼)。患者的平均年龄为14.2岁,男女比例为1:0.7。共有2532只眼进行了带自体筋膜的筋膜吊带。平均随访时间32.6个月。筋膜吊带手术的反射距离1(MR1)边缘改善为2.79mm。涉及自体阔筋膜的手术并发症发生率为21.3%。最常见的并发症包括眩眼(19.8%),残余下垂(11.5%),和角膜损伤(10.4%)。再次手术率为13.4%。再手术最常见的适应症是美容,不对称(18%),眼睑折痕异常(30%),和上眼睑修剪(18%)。AFLS患者的总并发症发生率为20%(95%CI:6至35,p<0.01;I2=89%),而非AFLS患者为27%(95%CI:14至40,p<0.01;I2=90%)。AFLS在上睑下垂的手术治疗中是谨慎的。这篇综述的结果表明,与其他传统技术相比,它们的使用与相似的并发症发生率相关,但重复手术较少。I2=90%)在非AFLS患者中。AFLS在上睑下垂的手术治疗中是谨慎的。这篇综述的结果表明,与其他传统技术相比,它们的使用与相似的并发症发生率相关,但重复手术较少。|上眼睑是一种异常低的上眼睑。管理取决于严重程度,病因学,和提上掌肌(LPS)的功能。这篇综述评估了自体筋膜吊索(AFLS)在上睑下垂手术治疗中的成功。并发症和再手术/翻修率。在PubMed上进行了文献检索,谷歌学者PROSPERO,dynamed,DARE,EMBASE,科克伦,和BMJ数据库(PROSPERO注册:CRD42023475090),纳入30项研究(3690例患者和5059只眼)。患者的平均年龄为14.2岁,男女比例为1:0.7。共有2532只眼进行了带自体筋膜的筋膜吊带。平均随访时间32.6个月。筋膜吊带手术的反射距离1(MR1)边缘改善为2.79mm。涉及自体阔筋膜的手术并发症发生率为21.3%。最常见的并发症包括眩眼(19.8%),残余下垂(11.5%),和角膜损伤(10.4%)。再次手术率为13.4%。再手术最常见的适应症是美容,不对称(18%),眼睑折痕异常(30%),和上眼睑修剪(18%)。AFLS患者的总并发症发生率为20%(95%CI:6至35,p<0.01;I2=89%),而非AFLS患者为27%(95%CI:14至40,p<0.01;I2=90%)。AFLS在上睑下垂的手术治疗中是谨慎的。这篇综述的结果表明,与其他传统技术相比,它们的使用与相似的并发症发生率相关,但重复手术较少。
    Ptosis is an abnormally low-positioned upper eyelid. Management depends on severity, aetiology, and function of the levator palpebrae superioris muscle (LPS). This review evaluates the success of autogenous fascia lata slings (AFLS) in the surgical management of ptosis, together with complication and reoperation/revision rates. A literature search was conducted on PubMed, Google Scholar PROSPERO, Dynamed, DARE, EMBASE, Cochrane, and BMJ databases (PROSPERO registration: CRD42023475090), and 30 studies (3690 patients and 5059 eyes) were included. The average age of the patients was 14.2 years with a ratio of male:female patients of 1:0.7. A total of 2532 eyes had undergone a fascial sling with autogenous fascia lata. The average follow-up period was 32.6 months. Improvement in the margin to reflex distance 1 (MRD1) with fascial sling surgery was 2.79 mm. The rate of complications from surgery involving autogenous fascia lata was 21.3%. The most common complications included lagophthalmos (19.8%), residual ptosis (11.5%), and corneal damage (10.4%). The reoperation rate was 13.4%. Most common indications for reoperation were cosmetic, with asymmetry (18%), lid crease abnormalities (30%), and upper eyelid trimming (18%). The overall complication rate in AFLS patients was 20% (95% CI: 6 to 35, p < 0.01; I2 = 89%) versus 27% (95% CI: 14 to 40, p < 0.01; I2 = 90%) in non-AFLS patients. AFLSs are prudent in the surgical management of ptosis. The results of this review demonstrate that their use is associated with similar complication rates but fewer reoperations than other traditional techniques.
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  • 文章类型: Review
    关于建立实现治疗和美容目标的手术计划,多个良性乳腺结节的治疗有时是具有挑战性的。据报道,在某些良性乳腺病变病例中成功应用了肿瘤增生技术。在这个案例报告中,我们介绍了1例乳房破裂和丰满的多发性纤维腺瘤患者的手术治疗和结果。对该患者进行了使用改良的垂直椎弓根技术进行广泛的腺体切除和减少乳房成形术的联合手术,希望完全切除病变的人,体积减少,和乳房固定。在短期和中期随访中,美容效果令人满意。此外,本文对乳腺纤维腺瘤的不同治疗方法进行了综述和讨论。
    Treatment of multiple benign breast nodules is sometimes challenging with respect to establishing a surgical plan that achieves both therapeutic and cosmetic goals. Successful application of oncoplastic techniques has been reported in selected cases of benign breast lesions. In this case report, we present the surgical treatment and outcome of a patient with multiple fibroadenomas in ptotic and voluminous breasts. A combined procedure of extensive glandular resection and reduction mammoplasty using a modified vertical pedicle technique was performed on this patient, who desired complete lesion removal, volume reduction, and mastopexy. The cosmetic result was satisfactory at both the short- and mid-term follow-up. In addition, different techniques applied in the treatment of breast fibroadenoma are herein reviewed and discussed.
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  • 文章类型: Review
    背景:描述一例眼眶梭形细胞癌伴角膜缘缺血的病例,并简要回顾文献。
    方法:回顾性病例报告和简要文献复习。
    结果:一名61岁的男子出现上睑下垂,眶周疼痛,视力下降和角膜缘缺血。他没有提到以前的任何疾病,也没有服用任何药物。成像显示轨道肿块对SMA呈阳性,波形蛋白和CD99,S100阴性。我们对患者进行了化疗,并随访了整个疾病过程中发生的其他并发症。
    结论:梭形细胞癌是鳞状细胞癌(SCC)的一种罕见变体,具有鳞状细胞和间质细胞的双重恶性组织学分化。很少有眼眶梭形细胞癌的报道,继发于远处转移或区域扩散。在这项研究中,我们报道了首例伴有角膜缘缺血的原发性眼眶梭形细胞癌。需要进一步的研究来描述这种罕见的临床实体的不同临床表现和管理策略。
    BACKGROUND: To describe a case of orbital spindle cell carcinoma which presented with limbal ischemia and briefly review the literature.
    METHODS: Retrospective case report and brief literature review.
    RESULTS: A 61-year old man presented with blepharoptosis, periorbital pain, decreased vision and limbal ischemia. He did not mention any previous illness and did not take any kind of drugs. Imaging revealed an orbital mass that was positive for SMA, Vimentin and CD99 and negative for S100. We treated the patient with chemotherapy and followed him for other complications that occurred throughout disease course.
    CONCLUSIONS: Spindle cell carcinomas are a rare variant of squamous cell carcinoma (SCC) with dual malignant histologic differentiation of squamous and mesenchymal cells. Few cases of orbital spindle cell carcinoma have been reported, which have been either secondary to distant metastasis or regional spread. In this study, we have reported the first case of primary orbital spindle cell carcinoma presenting with limbal ischemia. Further studies are needed to describe the different clinical presentations and management strategies of this rare clinical entity.
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  • 文章类型: Meta-Analysis
    背景:重症肌无力(OMG)是一种自身免疫性疾病,可导致眼部症状,例如复视和上睑下垂。文献中报道的转换为继发性广泛性重症肌无力(SGMG)的患者比例各不相同。本系统综述的目的是确定OMG患者的临床特征并确定SGMG转换的比例。
    方法:我们对随机对照试验进行了电子数据库搜索,前瞻性非随机研究,EMBASE的观察性研究和回顾性研究,中部,MEDLINE和WebofScience。我们纳入了OMG患者的研究,这些患者最初仅在临床实践中出现眼部症状和体征。报告SGMG的特征和结果。我们排除了儿科和先天性重症肌无力人群的研究。Eligibile研究包括用任何语言撰写的文章,其中包含OMG患者的数据。测量的主要结果是转换为SGMG的OMG患者的比例以及与OMG的二次推广相关的危险因素。两名独立审稿人筛选标题和摘要,并从全文中提取数据,根据系统评价和荟萃分析(PRISMA)指南的首选报告项目报告结果。使用JoannaBriggs研究所的关键评估表格对方法进行了评估。PROSPERO注册号:CRD2021285257结果:31项研究纳入了定量和定性分析。泛化的比例从11%到84%不等。合并比例为39%(95%CI32%,47%,I2=95·86%,p<0·001未加权,低确定性)。转换为SGMG的女性合并风险比为1.06(95CI0·96,1·17,I2=0%p=0·614,包括21项研究,非常低的确定性)和AChR阳性的合并风险比为1·30(95CI1·05,1·56,I2=0%p=0·455,包括16项研究,非常低的确定性)。
    结论:已确定女性和抗AChR阳性等危险因素可能与SGMG相关,但没有足够的高质量观察性研究。需要一个前瞻性的全球OMG患者数据库,包括所有不同人口的国家。
    Ocular myasthenia gravis (OMG) is an autoimmune disorder resulting in ocular symptoms such as diplopia and ptosis. The proportion of patients who convert to secondary generalized myasthenia gravis (SGMG) reported in the literature has been varied. The aim of this systematic review was to determine the clinical characteristics of patients with OMG and the proportion of SGMG conversion.
    We conducted an electronic database search for randomized controlled trials, prospective nonrandomized studies, observational studies, and retrospective studies in EMBASE, CENTRAL, MEDLINE, and Web of Science. We included studies with patients with OMG who initially presented with ocular symptoms and signs only and were seen in clinical practice, reporting on the characteristics and outcomes of SGMG. We excluded studies with pediatric and congenital myasthenia gravis populations. Eligible studies included articles written in any language and containing data on patients with OMG. The main outcome measured was the proportion of patients with OMG who converted to SGMG and risk factors associated with secondary generalization of OMG. Two independent reviewers screened titles and abstracts and extracted data from full texts, reporting findings according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. The methodology was evaluated using the Joanna Briggs Institute critical appraisal forms. PROSPERO registration number: CRD2021285257.
    Thirty-one studies were included in the quantitative and qualitative analysis. The proportion of generalization ranged from 11% to 84%. The pooled proportion was 39% (95% CI 32%-47%, I 2 = 95.86%, p < 0.001 unweighted, low certainty). The pooled risk ratio of female sex for conversion to SGMG was 1.06 (95% CI 0.96-1.17, I 2 = 0% p = 0.614, 21 studies included, very low certainty), and the pooled risk ratio of acetylcholine receptor (AChR) positivity was 1.30 (95% CI 1.05-1.56, I 2 = 0% p = 0.455, 16 studies included, very low certainty).
    Risk factors such as female sex and anti-AChR positivity have been identified to have possible associations with SGMG, but there are not enough quality observational studies. There is a need for a prospective global database of patients with OMG, including all countries with different populations.
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  • 文章类型: Journal Article
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  • 文章类型: Journal Article
    上眼睑手术,如眼睑成形术和眼睑矫正,是全世界普遍执行的程序。这篇综述研究了这些手术对眼部特性和视觉功能的影响。对PubMed和GoogleScholar数据库进行了搜索,以识别2000年后发表的相关文章。结果表明,眼和附件器官作为一个统一的视觉系统,一个组件的变化会影响其他组件的功能。眼睑手术可以通过修改视网膜照明和眼部光学来改变眼部性质和功能。这些改变会影响眼压估计,角膜曲率,角膜上皮厚度,角膜的屈光力,和人工晶状体计算。此外,眼睑手术会加剧干眼症状,影响对比敏感度,这是视觉质量的重要因素。因此,在进行眼睑手术之前和随访期间,了解这些相互作用至关重要。这篇综述总结了最近关于上眼睑手术对角膜性能和视功能的影响的文献。强调在规划或进行此类程序时考虑这些因素的重要性。
    Upper eyelid surgeries, such as blepharoplasty and ptosis correction, are commonly performed procedures worldwide. This review examines the effects of these surgeries on ocular properties and visual function. A search of the PubMed and Google Scholar databases was conducted to identify relevant articles published after 2000. The results demonstrate that the ocular and adnexal organs function as a unified visual system, with changes in one component affecting the functions of others. Eyelid surgery can alter ocular properties and functions by modifying retinal lighting and ocular optics. These alterations can affect intraocular pressure estimation, corneal curvature, corneal epithelial thickness, refractive power of the cornea, and intraocular lens calculation. Additionally, eyelid surgery can exacerbate dry eye symptoms and impact contrast sensitivity, which is a significant factor in visual quality. Therefore, understanding these interactions is crucial before performing eyelid surgery and during follow-up. This review summarizes recent literature on the effects of upper eyelid surgery on corneal properties and visual function, emphasizing the importance of considering these factors when planning or undergoing such procedures.
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  • 文章类型: Review
    智力发育障碍与畸形相和上睑下垂(IDDDFP)(MIM#617333)是一种以精神运动发育延迟为特征的常染色体显性疾病,智力残疾(ID),和由于含Bromodomain和PHD手指蛋白(BRPF1)(MIM#602410)基因的致病性变异而导致的畸形面部特征。在这里,我们报告了首例土耳其IDDDFP患者。此外,患者有造血障碍,如贫血和血小板减少症,以前没有在IDDDFP患者中描述过。使用全外显子组测序(WES)的遗传测试揭示了BRPF1基因外显子3上的新型杂合c.1433G>A;p.W478*(NM_004634.3)致病性变体。患者表现出IDDDFP的经典特征,例如智力障碍,发育迟缓,上睑下垂,微型和回颌,和畸形的面部特征,除了贫血和血小板减少。除了BRPF1中的变体之外,通过WES和染色体微阵列分析(CMA)没有检测到额外的基因组变化。希望,我们关于BRPF1导致的患者造血异常的新报告将扩展到IDDDFP的临床范围,鼓励有关BRPF1-造血系统关系的进一步研究,并影响造血系统疾病的诊断和治疗方案。
    Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) (MIM#617333) is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability (ID), and dysmorphic facial features due to pathogenic variations in the Bromodomain- and PHD Finger-Containing Protein (BRPF1) (MIM#602410) gene. Herein, we report the first Turkish patients with IDDDFP. Additionally, the patients had hematopoietic disorders such as anemia and thrombocytopenia, which have not been previously described in IDDDFP patients. Genetic testing using Whole Exome Sequencing (WES) revealed a novel heterozygous c.1433G > A; p.W478* (NM_004634.3) pathogenic variant on exon 3 of the BRPF1 gene. The patients demonstrated classical features of IDDDFP such as intellectual disability, developmental delay, ptosis, micro and retrognathia, and dysmorphic facial features, in addition to the anemia and thrombocytopenia. Apart from the variant in BRPF1, no additional genomic changes were detected by WES and chromosomal microarray analysis (CMA). Hopefully, our novel report on the hematopoietic anomalies of our patients due to BRPF1 will expand upon the clinical spectrum of IDDDFP, encourage further studies about BRPF1-hematopoietic system relations, and affect the diagnostic and therapeutic schemes of hematopoietic system disorders.
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