Keratoplasty, Penetrating

角膜移植术,渗透
  • 文章类型: Journal Article
    背景:人类嗜色杆菌分布广泛,主要感染免疫功能受损的患者。历史上,O.anthropi被认为具有低毒性和致病性;然而,最近的研究表明,它实际上可能导致严重的化脓性感染。在这个案例研究中,我们检查了一例角膜移植后的O.anthropi感染,探讨此类术后感染的发生和结果。
    方法:回顾性分析涉及检查的病例,基因检测用于诊断,以及后续治疗。在接受部分穿透性角膜移植术并伴有真菌性角膜溃疡穿孔的患者中,术后观察到前房渗出和化脓。尽管有抗真菌治疗,前房液和化脓性物质的遗传测试证实了O.人品感染。发现使用特异性靶向O.anthropi的抗微生物治疗可有效治疗感染。
    结论:应监测角膜移植后的炎症反应是否存在其他感染。基因检测对临床诊断和治疗具有重要意义。
    BACKGROUND: Ochrobactrum anthropi is widely distributed and primarily infects patients with compromised immune functions . Historically, O. anthropi has been considered to possess low toxicity and pathogenicity; however, recent studies suggest that it may in fact cause severe purulent infections. In this case study, we examine a case of O. anthropi infection following corneal transplantation, exploring the occurrence and outcomes of such post-operative infections.
    METHODS: A retrospective analysis of cases involved examinations, genetic testing for diagnosis, and subsequent treatment. In patients undergoing partial penetrating keratoplasty with a fungal corneal ulcer perforation, anterior chamber exudation and purulence were observed post-surgery. Despite antifungal treatment, genetic testing of the anterior chamber fluid and purulent material confirmed O. anthropi infection. The use of antimicrobial treatment specifically targeting O. anthropi was found to be effective in treating the infection.
    CONCLUSIONS: Inflammatory reactions following corneal transplantation should be should be monitored for the presence of other infections. Genetic testing has significant implications for clinical diagnosis and treatment.
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  • 文章类型: Case Reports
    背景:眼部放射治疗后的眼表疾病,尽管通常有报道,经常被忽视。诊断的任何延迟都可能导致威胁视力的并发症。该病例强调了严重的眼表放射后疾病的临床结果,强化治疗的重要性,以及进一步手术干预的局限性。
    方法:一名34岁的女性因质子束治疗复发性虹膜黑色素瘤后右眼疼痛和红肿(OD)长达数年的历史而被转诊。患者随后发展为放射后视网膜病变伴黄斑水肿,继发性青光眼,白内障,以及严重的眼表疾病,伴有角膜代偿失调和带状角膜病变。已经尝试了几种手术治疗,包括白内障超声乳化人工晶状体植入术和丝裂霉素C小梁切除术。然后需要进行Baerveldt青光眼引流。鉴于放射后眼表疾病伴进展性带状角膜病变的临床表现恶化,讨论了穿透性角膜移植术(PKP)的可能性。
    结论:质子束放疗后眼表疾病的临床症状持续恶化可能是放射后综合征的结果。缺血逐渐扩大,血管炎,炎症介质压缩视网膜组织,导致复发性黄斑水肿以及继发性青光眼和角膜代偿失调。偶尔会注意到带状角膜病变,似乎是由严重的眼表放射后疾病引起的。然而,PKP通常适用于角膜穿孔的病例,不受控制的感染性角膜炎,或者在角膜混浊的情况下改善视力,这些都不适用于我们的病人。此外,放射后角膜病变意味着受损的角膜基质淋巴发生和血管生成,这两者现在被认为是同种异体移植排斥的必要条件。此外,先前进行的Baerveldt青光眼引流手术会影响受体角膜内皮细胞的存活率。因此,穿透性或内皮角膜移植术应被视为高风险手术。在这种情况下,严重眼表疾病的严格治疗至关重要.我们通过遵循泪膜和眼表协会制定的最新指南来管理患者的复杂情况,并旨在尽可能有效地缓解症状。总之,应考虑关于手术治疗方案的谨慎决策,考虑到所涉及的复杂性和潜在风险。
    Eine34-jährigeFrauwurdewegenSchmerzenundRötungen是对AugeseitJahrenüberwiesen的重新定义。IhreKrankengeschichteergabeyeExzisioneinesIrismelanomsimAltervon29Jahren.奥夫格伦德·雷兹里夫斯·沃德·达劳芬恩·哈恩·哈恩·哈恩治疗。InfolgedessenentwickeltediePatientinnachderStrahlentherapieeineRetinopathiemitMakulaödem,sekunäremGlaukom,KataraktsowieeinerschwerenStörungderAugenoberflächitHornhautdekompensationandeinerBandkeratpathie.EswurdenmehrurgischeEingriffeunternommen,darunterdiePhakourdulkationmitIOL-implantationanddieTrabekulektomiemitmitomycinC.TrotzvielfältigertherapeutischerAnsätzenzurBefeuchtungzeigtesichkeineVerbesserungdesProblemsderAugenoberfläche.AugenoberflächenstörungwurdedieMöglichkeiteinerperierendenKeratoplastikinBetrachtgezogen.Esbleibtjedochfraglich,urden结果:
    BACKGROUND: Ocular surface disorder after ocular radiation therapy, even though commonly reported, is often overlooked. Any delay in diagnosis may lead to complications that threaten vision. The presented case highlights the clinical outcome of a severe post-radiation disorder of the ocular surface, the importance of intensive therapy, and the limitations of further surgical interventions.
    METHODS: A 34-year-old woman was referred for a second opinion due to a years-long history of pain and redness in her right eye (OD) after proton beam therapy for recurrent iris melanoma. The patient then developed post-radiation retinopathy with macula edema, secondary glaucoma, cataract, as well as a severe ocular surface disorder with corneal decompensation and band keratopathy. Several surgical treatments have been attempted, including phacoemulsification with IOL implantation and trabeculectomy with mitomycin C. Due to refractory glaucoma, Baerveldt glaucoma drainage was then necessary. Given the worsening clinical presentation of post-radiation ocular surface disorder with progressing band keratopathy, the possibility of penetrating keratoplasty (PKP) was discussed.
    CONCLUSIONS: The continuous worsening of clinical symptoms of the disorder of the ocular surface after proton beam radiotherapy can be the result of a post-radiation syndrome. Gradual expansion of ischemia, vasculitis, and inflammatory mediators compresses the retinal tissue, leading to recurrent macular edema as well as to secondary glaucoma and corneal decompensation. Band keratopathy is occasionally noted and seems to result from severe post-radiation disorder of the ocular surface. However, PKP would typically be indicated in cases of corneal perforation, uncontrolled infectious keratitis, or for improving vision in the presence of corneal opacification, none of which applied to our patient. Furthermore, post-radiation keratopathy implies compromised corneal stromal lymphogenesis and angiogenesis, both of which are now considered essential conditions for allograft rejection. Moreover, a previously performed Baerveldt glaucoma drainage surgery can affect the survival rate of the endothelial cells of the recipient cornea. Therefore, a penetrating or endothelial keratoplasty should be viewed as a high-risk procedure. In this instance, the rigorous treatment of the severe ocular surface disorder was crucial. We managed our patient\'s complex situation by following the latest guidelines set by the Tear Film & Ocular Surface Society and aimed to alleviate the symptoms as effectively as possible. In conclusion, careful decision-making regarding surgical treatment options should be considered, taking into account the complexities and potential risks involved.
    Eine 34-jährige Frau wurde wegen Schmerzen und Rötungen am rechten Auge seit Jahren überwiesen. Ihre Krankengeschichte ergab eine Exzision eines Irismelanoms im Alter von 29 Jahren. Aufgrund eines Rezidivs wurde daraufhin eine Protonenstrahlentherapie durchgeführt. Infolgedessen entwickelte die Patientin nach der Strahlentherapie eine Retinopathie mit Makulaödem, sekundärem Glaukom, Katarakt sowie einer schweren Störung der Augenoberfläche mit Hornhautdekompensation und einer Bandkeratopathie. Es wurden mehrere chirurgische Eingriffe unternommen, darunter die Phakoemulsifikation mit IOL-Implantation und die Trabekulektomie mit Mitomycin C. Aufgrund des refraktären Glaukoms war schließlich auch eine Baerveldt-Implantation erforderlich. Trotz vielfältiger therapeutischer Ansätzen zur Befeuchtung zeigte sich keine Verbesserung des Problems der Augenoberfläche. Aufgrund der Verschlechterung der klinischen Präsentation der Augenoberflächenstörung wurde die Möglichkeit einer perforierenden Keratoplastik in Betracht gezogen. Es bleibt jedoch fraglich, ob solche Patienten von einer perforierenden Keratoplastik profitieren würden, da die resultierende Lymph- und Hämangiogenese des Hornhautstromas wesentliche Risikofaktoren für die Abstoßung von Fremdgewebe darstellen.
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  • 文章类型: Review
    目的:我们描述了一例角膜交联(CXL)后严重角膜融化的病例的处理方法,该方法采用结膜瓣,然后进行深前板层角膜移植术(DALK)。
    方法:一名12岁男性在加速上皮脱离CXL方案后出现严重的角膜融化,并伴有穿孔。我们最初用结膜瓣治疗患者以防止穿孔。三个月后,我们进行了DALK以恢复视力。
    结果:结膜瓣手术使我们避免了角膜穿孔和穿透性角膜移植术(PK)。一旦炎症消退,我们凹陷结膜并执行DALK光学目的。十二个月后,移植物清晰,矫正视力为20/25(Snellen)。术后无并发症发生。
    结论:尽管CXL被认为是一种安全的手术,在极少数情况下,它会导致严重的并发症,如角膜雾霾,感染性和非感染性角膜炎,基质熔化和穿孔。角膜融化和穿孔通常由紧急PK管理。在此,我们建议采用分阶段的方法,包括紧急结膜瓣,然后在以后的时间进行DALK,使我们能够避免PKàchaud。
    OBJECTIVE: We describe the management of a case of severe corneal melting after corneal cross-linking (CXL) treated with a staged approach using a conjunctival flap followed by deep anterior lamellar keratoplasty (DALK).
    METHODS: A 12-year-old male developed severe corneal melting with pending perforation after an accelerated epithelium-off CXL protocol. We initially treated the patient with a conjunctival flap to prevent perforation. Three months later, we performed DALK to restore vision.
    RESULTS: Conjunctival flap surgery allowed us to avoid corneal perforation and penetrating keratoplasty (PK) à chaud. Once the inflammation had resolved, we recessed the conjunctiva and performed DALK for optical purposes. Twelve months later, the graft was clear and the corrected visual acuity was 20/25 (Snellen). No complications occurred after surgery.
    CONCLUSIONS: Although CXL is considered a safe procedure, in rare cases it can lead to serious complications, such as corneal haze, infectious and non-infectious keratitis, stromal melting and perforation. Corneal melting and perforation are usually managed by emergency PK. Herein we suggest a staged approach involving an emergency conjunctival flap followed by DALK at a later time that allowed us to avoid PK à chaud.
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  • 文章类型: Systematic Review
    圆锥角膜是一种角膜疾病,其特征是角膜逐渐变薄和隆起。目前,管理的主要目标是停止其发展,恢复正常的角膜强度,预防急性并发症,保存视力。穿透性角膜移植术和深板层角膜移植术作为晚期圆锥角膜的常规手术方法受到相对较高的免疫不耐受率的限制。运营后恢复缓慢,高成本,和供体角膜的短缺。最近,微透镜附加角膜移植术的发展可以通过将微透镜植入飞秒激光产生的基质袋中来恢复角膜厚度,可以来自尸体角膜或更有吸引力,通过小切口透镜提取(SMILE)手术从患者中提取。作为该领域的第一次系统综述,我们批判性地回顾了有关微透镜附加角膜移植术的出版物,并提供了我们对其临床应用和未来研究重点的看法。
    Keratoconus is a corneal disorder characterized by the progressive thinning and bulging of the cornea. Currently, the major goal of management is to halt its progression, restore normal corneal strength, prevent acute complications, and save vision. Penetrating keratoplasty and deep anterior lamellar keratoplasty as conventional surgical methods for advanced keratoconus are limited by relatively high rates of immune intolerance, slow post-operational recovery, high costs, and shortage of donor corneas. Recently, the development of lenticule addition keratoplasty enables the restoration of corneal thickness simply by implanting a lenticule into the stromal pocket created with the femtosecond laser, which can originate from cadaver corneas or more appealing, be extracted from patients via a small-incision lenticule extraction (SMILE) surgery. As the first systematic review in this field, we critically review publications on lenticule addition keratoplasty and provide our perspectives on its clinical application and the focus of future research.
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  • 文章类型: Review
    背景:这项研究旨在评估视觉结果,中央角膜厚度,由于初次穿透性角膜移植术(PK)后内皮移植物失代偿,导致尺寸过小的连续Descemet膜内皮角膜移植术(DMEK)的队列中的再起泡率。
    方法:对所有在2020年11月至2022年6月原发性PK失败后接受序贯DMEK(n=16)或三重DMEK(n=2)的患者进行回顾性评估。分析参数为校正远距视力(CDVA),中央角膜厚度(CCT),再起泡率和移植物存活率。
    结果:纳入18例患者的18只眼。所有患者在失败的PK(s)后接受了带有过小移植物的DMEK。最后一次PK和DMEK之间的平均时间为102±82周。平均随访时间为8.9±4.6个月。CDVA从术前的1.12±0.60logMAR显著增加至术后6周的0.64±0.49logMAR(p=0.013)。平均CCT从DMEK前的807±224μm显著降低至DMEK后6周的573±151μm(p=0.003)。在7天的中位时间后,八只眼睛(44.4%)需要重新起泡。12个月KaplanMeier生存率为66.7%。
    结论:在原发性PK后无基质瘢痕的内皮移植物失代偿的情况下,可以对在内皮失代偿之前CDVA满意的部分患者进行DMEK。在DMEK指示之前,应常规进行AS-OCT以循环搜索PK移植物边缘的后台阶,以及在DMEK后不久排除内皮移植物的脱离。与原发性DMEK相比,应告知所有患者更高的再起泡率。
    BACKGROUND: This study aims to evaluate visual outcome, central corneal thickness, and re-bubbling rate in a cohort with undersized sequential Descemet Membrane Endothelial Keratoplasty (DMEK) due to endothelial graft decompensation following primary penetrating keratoplasty (PK).
    METHODS: All patients who received a sequential DMEK (n = 16) or triple DMEK (n = 2) after failed primary PK between November 2020 and June 2022 were retrospectively evaluated. Analyzed parameters were corrected distance visual acuity (CDVA), central corneal thickness (CCT), re-bubbling rate and graft survival.
    RESULTS: 18 eyes of 18 patients were included. All patients underwent a DMEK with undersized graft after failed PK(s). Mean time between the last PK and DMEK was 102 ± 82 weeks. Mean follow-up time was 8.9 ± 4.6 months. CDVA increased significantly from 1.12 ± 0.60 logMAR preoperatively to 0.64 ± 0.49 logMAR 6 weeks postoperatively (p = 0.013). Mean CCT decreased significantly from 807 ± 224 μm before to 573 ± 151 μm 6 weeks after DMEK (p = 0.003). Re-bubbling was necessary in eight eyes (44.4%) after a median time of 7 days. The 12-month Kaplan Meier survival was 66.7%.
    CONCLUSIONS: In case of endothelial graft decompensation without stromal scars after primary PK, a DMEK can be performed for selected patients who had satisfying CDVA before the endothelial decompensation. Prior to DMEK indication, an AS-OCT should routinely be performed to circularly search for posterior steps at the PK graft margin, as well as shortly after DMEK to exclude a detachment of the endothelial graft. All patients should be informed about a higher re-bubbling rate in comparison to primary DMEK.
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  • 文章类型: Journal Article
    Fungal keratitis due to Fusarium species is a rare but serious ocular disease. Due to its rapid progression, often late diagnostic confirmation as well as limited topical treatment options, this is potentially sight threatening. Increasing contact lens use and global climate change have been suggested to be factors leading to an increase in cases of fusarium keratitis, even in regions with moderate climate. Early recognition and initiation of antimycotic treatment, as well as early surgical treatment by penetrating keratoplasty are decisive for the outcome.
    Die Keratitis durch Fusarien stellt in Deutschland ein insgesamt seltenes, aber durch seinen raschen Krankheitsverlauf, die meist verspätete Diagnosestellung und die eingeschränkten konservativen Behandlungsoptionen mittels antimykotischer Therapie ein ernst zu nehmendes Krankheitsbild mit potenziell visusbedrohendem Verlauf dar. Durch die zunehmende Anwendung von Kontaktlinsen und möglicherweise durch die veränderten klimatischen Bedingungen ist ein weiterer Anstieg der Fallzahlen in Deutschland zu erwarten. Das rechtzeitige Erkennen und Einleiten der antimykotischen Therapie und bei ausbleibender Besserung die frühzeitige Durchführung einer notfallmäßigen Keratoplastik sind hierbei maßgeblich für den Therapieerfolg.
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  • 文章类型: Journal Article
    人工晶状体的无缝线巩膜固定(sSFIOL)是一种常用的光学康复方法,用于无晶状体患者的囊膜支撑不足,角膜移植手术可以同时与sSFIOL联合处理无晶状体角膜混浊。单阶段手术避免了重复眼内手术的需要,移植物内皮损伤的风险较低,眼内炎,和与序贯手术相关的黄斑水肿。然而,它要求外科专业知识,并增加术后炎症的机会。角膜外科医生可以选择有关宿主和供体准备的方式以及巩膜固定的方法以及某些术中修改以及术后警惕可能会提高手术效果。与sSFIOL角膜移植术相关的大多数研究都分类为病例报告/系列,外科技术,和回顾性研究,目前可获得的前瞻性数据非常有限。本综述的目的是巩固所有关于伴随的sSFIOL和角膜移植术的现有文献。
    Sutureless scleral fixation of intraocular lens (sSFIOL) is a commonly employed method of optical rehabilitation of aphakic patients with deficient capsular support, and corneal transplant surgeries can be simultaneously combined with sSFIOL to handle aphakic corneal opacities. A single-stage procedure circumvents the need for repeat intraocular procedures and carries lower risk of graft endothelial damage, endophthalmitis, and macular edema associated with sequential surgeries. However, it mandates surgical expertise and increases the chances of postoperative inflammation. A basket of options is available with the corneal surgeons regarding the manner of host and donor preparation as well as the approaches to scleral fixation and certain intraoperative modifications along with postoperative vigilance may enhance the surgical outcomes. Most of the studies pertaining to keratoplasty with sSFIOL categorize to case reports/series, surgical techniques, and retrospective studies with very limited prospective data available currently. The purpose of the present review is to consolidate all available literature on concomitant sSFIOLs and keratoplasty procedures.
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  • 文章类型: Systematic Review
    目的:本研究的目的是评估角膜内皮功能障碍[Fuchs内皮角膜营养不良(FECD)和大疱性角膜病变(BK)]的内皮角膜移植术(EK)与穿透性角膜移植术(PK)的长期结果。
    方法:在这篇系统综述中,我们搜索了PubMed,Cochrane图书馆,和Embase直到2022年5月,并考虑了所有类型的研究来实现我们的目标。移植物在5年、10年和15年存活是主要结果。
    结果:纳入了50项队列研究。在5年,在FECD和BK中,EK后移植物存活率似乎高于PK。两项比较研究显示,EK后的5年移植物存活率高于PK,或者没有显着差异。包括非比较研究,在FECD,PK的5年移植物存活率为0.69至0.98,DSEK从0.93到1.00,Descemet膜内皮角膜移植术(DMEK)为0.93至0.99。在BK,PK的5年移植物存活率范围为0.39至0.91,从0.65到0.89的DSEK,和从0.84到0.95的DMEK。PK的10年移植物存活率为0.20至0.90,EK的10年存活率为0.62至0.92。PK的平均5年最佳眼镜矫正视力范围为0.73至0.43LogMAR,从0.61到0.09的DSEK,和从0.31到0.05的DMEK。PK的5年排斥率从11.0%到28.7%不等,DSEK的5.0%到7.9%,DMEK从1.7%降至2.6%。
    结论:这些结果表明EK术后5年移植物存活率更高,次要结局更好。然而,证据水平很低。
    CRD42021260614。
    OBJECTIVE: The purpose of this study is to evaluate long-term outcomes of endothelial keratoplasty (EK) compared with penetrating keratoplasty (PK) for corneal endothelial dysfunction [Fuchs endothelial corneal dystrophy (FECD) and bullous keratopathy (BK)].
    METHODS: In this systematic review, we searched PubMed, the Cochrane Library, and Embase up to May 2022 and considered all types of studies addressing our objective. Graft survival at 5, 10, and 15 years was the main outcome.
    RESULTS: Fifty cohort studies were included. At 5 years, in FECD and BK, graft survival seemed higher after EK than PK. Two comparative studies showed either a higher 5-year graft survival after EK than PK or no significant differences. Including noncomparative studies, in FECD, the 5-year graft survival ranged from 0.69 to 0.98 for PK, from 0.93 to 1.00 for DSEK, and from 0.93 to 0.99 for Descemet membrane endothelial keratoplasty (DMEK). In BK, the 5-year graft survival ranged from 0.39 to 0.91 for PK, from 0.65 to 0.89 for DSEK, and from 0.84 to 0.95 for DMEK. The 10-year graft survival ranged from 0.20 to 0.90 for PK and from 0.62 to 0.92 for EK. The mean 5-year best spectacle-corrected visual acuity ranged from 0.73 to 0.43 LogMAR for PK, from 0.61 to 0.09 for DSEK, and from 0.31 to 0.05 for DMEK. The 5-year rejection rate ranged from 11.0% to 28.7% for PK, from 5.0% to 7.9% for DSEK, and from 1.7% to 2.6% for DMEK.
    CONCLUSIONS: These results suggest a higher 5-year graft survival and better secondary outcomes after EK. Nevertheless, the level of evidence was low.
    UNASSIGNED: CRD42021260614.
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  • 文章类型: Review
    目的:总结临床表现,微生物概况,治疗,不同角膜屈光手术后角膜感染的预后。
    方法:为了获得相关研究,英语数据库,包括PubMed,OvidEmbase,WebofScience,和CLNAHL,从1979年1月到2022年3月进行了搜索。文学的基础,临床特征,病原体,并检索每篇纳入的文章的治疗方法。
    结果:本综述纳入了84项研究,涉及306只感染性眼。潜在感染的危险因素包括眼睑炎病史,隐形眼镜的使用,和受污染的手术器械。平均起效时间为22.9±38.7天(范围:1天至3年)。角膜折变手术后感染性角膜炎最常见的细菌是金黄色葡萄球菌,其次是分枝杆菌和凝固酶阴性葡萄球菌。屈光手术后的大多数感染仅对药物治疗敏感,药物治疗后的最佳矫正视力为:82例(37.0%)为20/20或更好,20/40或更好的170例(76.5%),52例(23.5%)比20/40更差。手术干预包括皮瓣抬起,皮瓣截肢,环拆卸,120眼(44.5%)行角膜移植术。
    结论:角膜屈光手术后大多数感染发生在一周内,而超过一半的病例在激光辅助原位角膜磨镶术后发生约一个月。革兰氏阳性球菌和分枝杆菌是最常见的分离株。LASIK术后感染,角膜内环形(ICR)植入,和小切口微透镜提取,主要发生在角膜层之间,需要用抗生素灌溉隧道或口袋。
    OBJECTIVE: To summarize the clinical manifestations, microbiological profile, treatment, and prognosis of corneal infections after different keratorefractive surgery.
    METHODS: To obtain relevant studies, English-language databases, including PubMed, Ovid Embase, Web of Science, and CLNAHL, were searched from January 1979 to March 2022. The fundamentals of the literature, clinical characteristics, pathogens, and treatments were retrieved for each included article.
    RESULTS: Eighty-four studies involving 306 infectious eyes were included in this review. Risk factors of potential infection included a history of blepharitis, contact lens usage, and contaminated surgical instruments. The mean onset time was 22.9±38.7 days (range: 1 day to 3 years). The most common organism isolated from infectious keratitis after keratorefractive surgery were Staphylococcus aureus , followed by Mycobacterium and coagulase-negative Staphylococcus . Most of the infections after refractive procedures were sensitive to medical treatment alone, and the ultimate best-corrected visual acuity after medical treatment was as follows: 20/20 or better in 82 cases (37.0%), 20/40 or better in 170 cases (76.5%), and worse than 20/40 in 52 cases (23.5%). Surgical interventions including flap lift, flap amputation, ring removal, and keratoplasty were performed in 120 eyes (44.5%).
    CONCLUSIONS: Most infections after keratorefractive surgery occur within a week, whereas more than half of the cases after laser-assisted in situ keratomileusis happen after about a month. Gram-positive cocci and mycobacterium are the most common isolates. Infections after LASIK, intracorneal ring (ICR) implantation, and small incision lenticule extraction, which primarily occur between the cornea layers, require irrigation of the tunnels or pocket with antibiotics.
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  • 文章类型: Case Reports
    它涉及三个兄弟姐妹(两个28岁的双胞胎男孩和一个25岁的女人),他们的一只眼睛有眼球破裂的历史,另一只眼睛视力很差。在第一次检眼镜和仪器评估时,三名患者的完整眼睛呈现蓝色巩膜和角膜角化。然后对三个兄弟姐妹进行了全外显子组测序的遗传分析,鉴定导致脆性角膜综合征(BCS)诊断的PRDM5基因的双等位基因变体,一种罕见的常染色体隐性疾病,以角膜变薄和巩膜蓝色为特征。为了保护唯一完整的眼睛免受可能的破损,这三个兄弟姐妹接受了使用保护措施(聚碳酸酯护目镜等。)对症状进行密切监测,并被要求继续对与BCS相关的眼部和全身性疾病进行随访。鉴于眼镜和隐形眼镜可达到的最佳矫正视力较差,行穿透性角膜移植术,在3例患者中,有2例患者在2年的随访中保持了良好的视力。了解这种病理及其临床表现对于这种罕见但非常衰弱的病理的早期诊断和正确处理至关重要。据我们所知,这是在阿尔巴尼亚人群中报告的第一个BCS病例系列。
    It concerns three siblings (two 28 year old twin boys and a 25 year old woman) who presented a previous history of rupture of eyeball in one eye and very poor vision in the other. At the first ophthalmoscopic and instrumental evaluation, three patients presented with bluish sclera and keratoglobus in the intact eye. A genetic analysis with whole exome sequencing was then performed on the three siblings, identifying a biallelic variant of the PRDM5 gene that led to the diagnosis of Brittle Cornea Syndrome (BCS), a rare autosomal recessive disorder characterized by corneal thinning and blue sclera. To preserve the only intact eye from possible breakage, the three siblings were trained in using protective measures (polycarbonate goggles etc.) to carry out close monitoring of symptoms and were asked to continue with follow-up visits for ocular and systemic diseases associated with BCS. Given the poor best corrected visual acuity achievable with glasses and contact lenses, penetrating keratoplasty was performed, achieving good visual acuity maintained in the 2-year follow-up in two of the three patients. Knowledge of this pathology and its clinical manifestations is essential for early diagnosis and correct management of this rare but very debilitating pathology. To our knowledge, this is the first case series of BCS reported in an Albanian population.
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