Alport综合征眼部表现

目的 分析Alport综合征眼部病变的特征和发病情况,提高对此病的认识。方法 对14年来我院确诊的5名Alport综合征患者的资料进行回顾性分析,记录其一般情况、家族史、眼部、肾功能及耳科检查结果等。结果 患者均为男性。4人双眼具有典型Alport综合征眼部异常。3人接受肾活检明确诊断,3人有家族史。全部患者均有不同程度的血尿和感音神经性耳聋。结论 青年Alport综合征患者中眼部异常的发生率并不低,其表现有独特性;了解眼部病变特征燕结合全身病史可以提高疾病的确诊率。     

Alport综合征临床分析

目的总结Alport综合征的临床表现，尤其是眼部特征。方法回顾性分析32例被确诊为Alport综合征患者的内科、耳鼻喉科和眼科检查结果。结果所有患者均有不同程度的。肾脏病变：18例有。肾衰，4例肾功能不全，10例血尿。20例患者有感音神经性耳聋。13例患者有眼部异常表现，其中5例为典型性改变：前圆锥晶体3例，黄斑周围斑点2例。结论眼部异常不是Alport综合征诊断的必需条件，但因其典型的眼科表现应当引起眼科医师的注意。     

Alport综合征的临床表现

目的:分析Alport综合征患者的临床表现和眼部病变的特征。方法:对近21a来我院确诊的31例Alport综合征患者的资料进行回顾性分析,记录其一般情况、家族史、眼部、肾功能及耳科检查结果等。结果:患者中男21例(68%),女10例(32%)。确诊年龄19.8±9.7岁。患者中有17例满足3项以上诊断标准(55%),另外14例均进行了肾穿刺活检电镜检查支持诊断。12例有眼部异常(39%),4例同时有前锥形晶状体和黄斑周围视网膜斑点2项;1例仅有晶状体异常;7例仅有视网膜斑点。28例进行肾穿(90%),电镜检查符合诊断。20例有家族史(64%)。21例有听力障碍(68%)。结论:Alport综合征患者中眼部异常的表现有独特性;了解眼部病变特征并结合全身病史有助于疾病的诊断和随诊。     

Alport综合征眼部临床表现分析

目的:总结Alport综合征的临床表现,尤其是眼部特征。方法:回顾性分析32例被确诊为Alport综合征患者的内科、耳鼻喉科和眼科检查结果。结果:患者30例(93.7%)有疾病家族史。所有患者均有不同程度的肾脏病变:18例(56.3%)有肾功能衰竭,4例(12.5%)肾功能不全,10例(31.3%)血尿。患者20例(62.5%)有感音神经性耳聋。患者13例(40.6%)有眼部异常表现,其中5例(15.6%)为典型性改变:前圆锥晶体3例,黄斑周围斑点2例。结论:眼部异常不是Alport综合征诊断的必需条件,但因其典型的眼科表现应当引起眼科医师的注意,以便早期诊断治疗。     

Alport综合征眼部表现

Alport综合征(Alport syndrome,AS)是一种主要累及肾脏,同时伴眼、耳等其他器官损害的遗传性疾病,具有多种遗传方式.临床上以进行性肾功能损害、高频感音神经性耳聋、眼部改变为特征.AS可伴有多种眼部改变,但通常认为特征性眼部异常仅包括前圆锥状晶状体、黄斑部视网膜斑点及赤道部视网膜斑点三种.AS患者的眼部表现不仅有助于本病的诊断,亦有助于评价肾脏损害的程度及预后.眼部治疗主要针对影响视力的前圆锥状晶状体患者,超声乳化联合人工晶状体植入术是较为理想的选择,可取得良好的疗效.     

Alport综合征研究进展

Alport综合征是一种具有特征性的肾脏、眼部及耳部病变的遗传性疾病，本文主要对其发病机制、遗传方式、临床表现等进行综述。     

儿童Alport综合征眼部表现

目的探讨儿童Alport综合征的眼部表现。设计回顾性病例系列。研究对象北京大学第一医院儿科确诊的3~16岁Alport综合征患者19例。方法分析患儿的性别、年龄、病程、听力检查、肾功能检查等资料,以及详细的眼部检查结果包括视力、裂隙灯检查、散瞳眼底检查、彩色眼底照相等。主要指标年龄、病程、裂隙灯检查、散瞳眼底检查所见。结果 7/19例(36.8%)患者具有眼部改变,其中斑点样视网膜改变3例,周边视网膜色素紊乱及血管白鞘4例,晶状体混浊2例,因白内障已行手术治疗1例。2例患者慢性肾功能不全;3例患者感音神经性耳聋。结论儿童Alport综合征患者眼部异常出现较少且较轻,可能与患者年龄较小有关。本文报告的部分患儿发现周边视网膜色素紊乱及血管白鞘是否为其特征性改变有待进一步观察。     

神经嵴发育异常相关眼病

神经嵴是一个动态的胚胎干细胞群体，在眼部发育中起着关键作用。神经嵴与周围的神经外胚层、表面外胚层和中胚层相互作用，发育成眼球及其附属器的多种组织结构，包括角膜基质及内皮、小梁网、虹膜基质、睫状肌、玻璃体和脉络膜血管、Müller细胞等。眼部神经嵴细胞迁移和发育异常会引起一系列复杂的眼部疾病，包括影响眼前段的疾病，如Axenfeld-Rieger综合征、Peters异常、无虹膜、原发性先天性青光眼和指甲-髌骨综合征，以及影响眼后段的缺陷性疾病，如CHARGE综合征和鳃-眼-面综合征，此外还有一些罕见的神经嵴疾病的眼部异常，如Waardenburg综合征、Treacher-Collins综合征和Char综合征等。在这里我们将神经嵴细胞发育异常导致的眼部相关疾病做一综述，探讨与神经嵴迁移和发育相关的基因，以及这些基因的突变和缺陷如何导致眼部疾病。     

Hippo/YAP信号通路在眼部作用的研究进展

Hippo-YAP通路在机体发育和疾病发生中均具有重要作用。Hippo-YAP通路的调节紊乱可能导致病理组织过度生长和肿瘤的进展；近年来研究发现，Hippo-YAP信号通路的异常调节可能与眼部疾病相关，如圆锥角膜、Sveinsson 脉络膜视网膜萎缩和视网膜变性等，本文就Hippo/YAP 在眼部作用的研究进展进行系统综述，为眼部疾病的治疗提供理论基础。     

代谢组学在眼部疾病中的研究进展

眼部疾病是全球的重要健康问题。代谢组学是对一个系统中的代谢物进行识别和定量的新兴研究技术，可用于阐明疾病机制及识别新的生物标志物，为深入探究眼部疾病的发生和发展提供了新的策略。本文简介了代谢组学的基本技术，汇总分析了代谢组学在糖尿病视网膜病变、年龄相关性黄斑变性、青光眼和干眼四种眼部疾病中的最新研究进展，总结了潜在的生物标志物和代谢途径，并对代谢组学在未来眼部疾病管理和治疗中的应用前景进行了展望。     

The use of autologous serum in the development of corneal and oral epithelial equivalents in patients with Stevens-Johnson syndrome

PURPOSE: To evaluate the use of autologous serum (AS) from patients with severe ocular surface disease (OSD) in the development of transplantable corneal and oral epithelial tissue equivalents and to compare it with the use of conventional culture methods by using fetal bovine serum (FBS). METHODS: AS was obtained from patients with severe OSD secondary to Stevens-Johnson syndrome. Corneal and oral epithelial cells were cultivated in medium supplemented with either AS or FBS. Corneal and oral epithelial equivalents were constructed on denuded amniotic membranes. The bromodeoxyuridine (BrdU) ELISA cell proliferation assay and colony-forming efficiency (CFE) of cells cultivated in AS- or FBS-supplemented media were compared. The morphologic characteristics and the basement membrane assembly of cultivated epithelial equivalents were analyzed by light and electron microscopy, as well as by immunohistochemistry. RESULTS: BrdU proliferation assay and CFE analysis showed that human corneal and oral epithelial cells cultivated in AS-supplemented media had comparable proliferative capacities compared with FBS-supplemented media. The corneal and oral epithelial equivalents cultivated in AS- and FBS-supplemented media were morphologically similar and demonstrated the normal expression of tissue-specific keratins and basement membrane assembly. The presence of a well-formed stratified epithelium, a basement membrane, and hemidesmosomal attachments was confirmed by electron microscopy. CONCLUSIONS: AS-supplemented cultures were effective in supporting the proliferation of human corneal and oral epithelial cells, as well as the development of transplantable epithelial equivalents. The use of AS is of clinical importance in the development of autologous xenobiotic-free bioengineered ocular surface equivalents for clinical transplantation.     

Autologous serum eye drops for the treatment of dry eye diseases

Conventional treatment of dry eye mainly consists of the use of preservative-free artificial eye drops and punctal occlusion. None of the commercially available artificial tear preparations include essential tear components such as epidermal growth factor, hepatocyte growth factor, fibronectin, neurotrophic growth factor, and vitamin A-all of which have been shown to play important roles in the maintenance of a healthy ocular surface epithelial milieu. We reported previously that autologous serum (AS) eye drops contain these essential factors and that AS eye drops are beneficial in the treatment of ocular surface diseases such as persistent epithelial defects, superior limbic keratoconjunctivitis, keratoconjunctivitis sicca, and neurotrophic keratopathy. However, there is some controversy regarding the efficacy of AS treatment. We demonstrated that this modality is more effective than artificial tears in a randomized control study. In in vivo and in vitro experiments, AS eye drops showed marked suppression of apoptosis in the conjunctival and corneal epithelium. Albumin, the major protein in serum, improved ocular surface damage in vivo and rescued apoptosis after serum deprivation in vitro. The biological background of AS eye drops and previous clinical studies of these medications for the treatment of dry eye are discussed.     

Color Doppler Imaging of the Orbital Vessels in Ankylosing Spondylitis

Abstract

Purpose: To analyze the hemodynamic features of orbital blood flow velocities using Doppler ultrasonography in ankylosing spondiylitis (AS) patients, as well as to compare these results with those of healthy controls. Methods: 33 AS patients and 32 healthy controls were consecutively included in the study groups. The same radiologist performed ocular blood flow measurements. Peak systolic velocity (PSV), end diastolic velocity (EDV), and resistive index (RI) were measured in the central retinal artery (CRA), posterior ciliary arteries (PCAs), and ophthalmic artery (OA). Resistive index was used to assess arterial resistance; it was automatically calculated as RI [(PSV–EDV)/PSV]. Results: There were no significant differences in the PSV, EDV, and RI of the OA, CRA, and PCAs between AS patients and controls. Conclusion: This result suggests no possible contributory role of vascular structures in formation of uveitis in AS. We believe that our preliminary results need to be complemented with further studies, particularly including AS patients with uveitis and rheumatic diseases with other ocular involvement.     

Apert's syndrome: a case report

Apert's syndrome is a type of acrocephalosyndactylia that is from part of the great group of craniofacial synostoses. It is characterized by craniofacial dysmorphia and syndactylia on hands and feet, which differentiates it from Crouzon's disease. It is a rare affection that is often transmitted through an autosome dominant mode, but sporadic cases exist. We report the case of a 15-year-old girl who presented characteristic clinical signs of Apert's syndrome with normal karyotype without parental consanguinity. The Ser 252 Trp mutation of the FGFR2 gene was found, confirming the molecular diagnosis. This study illustrates the severity of ocular and neurological problems of untreated Apert's syndrome. The presence of hemoglobinopathy (Hb AS) is also a mark of its originality.     

Ocular abnormalities in Alagille syndrome

ObjectiveTo assess the type and frequency of ocular abnormalities occurring in Alagille syndrome (AS) in a large group of affected patients and their parents and the potential pathogenetic role of fat-soluble vitamin deficiency.DesignObservational case series.ParticipantsTwenty-two children with AS and 23 of their parents participated.Main outcome measuresParticipants underwent full ophthalmic examination, including refraction, orthoptic examination, keratometry, slit-lamp examination, and funduscopy. Corneal diameter measurement was performed in a subset of nine and fluorescein angiography in a subset of six. Serum levels of vitamins A and E and cholesterol were measured.ResultsThe most common ocular abnormalities in patients with AS were posterior embryotoxon (95%), iris abnormalities (45%), diffuse fundus hypopigmentation (57%, a previously unreported finding), speckling of the retinal pigment epithelium (33%), and optic disc anomalies (76%). Microcornea was not associated with large refractive errors, and visual acuity was not significantly affected by these ocular changes. Vitamin levels were normal. Ocular abnormalities including posterior embryotoxon, iris abnormalities, and optic disc or fundus pigmentary changes were detected in one parent in 36% of cases.ConclusionsAlagille syndrome is associated with a characteristic group of ocular findings without apparent serious functional significance and probably unrelated to fat-soluble vitamin deficiency. Simple ophthalmic examination of children with neonatal cholestatic jaundice and their parents should allow early diagnosis of AS, eliminating the need for extensive and invasive investigations.     

透明质酸钠在粘连性斜视矫正中的应用

目的：探讨透明质酸钠对粘连性斜视矫正的治疗效果及作用机理。方法：对各种原因造成的29例33眼粘连性斜视，在术中及术后早期局部留注高粘弹透明质酸钠，并嘱患者术眼早期,双消除和减少眼外肌与周围组织再粘连，观察斜视矫正情况和眼外肌活动情况，结果：所有粘连性斜视经治疗后均获改善，其中治愈17眼（51．5％），显效26眼（78．85）。矫正效果与粘连性斜视病因，粘连时间及视觉功能有关，使用透明质酸钠对眼未造成不良反应。结论：透明质酸钠能明显减轻粘连性斜视术后再粘连发生。     

Anterior segment optical coherence tomography and its clinical applications

Anterior segment optical coherence tomography (AS‐OCT) has become one of the cornerstones of non‐contact imaging modalities for assessing such structures as the cornea, anterior chamber angle, aqueous outflow pathway, sclera, and ocular surface structures. As such, it has a broad range of clinical applications, which have been independently reported in the literature. This paper aims to present a review of extant literature on the utility of AS‐OCT and its efficacy in clinical applications, and to evaluate the quality of available evidence. The following databases were searched from inception to 24 June 2018: Medline via Ovid, Cochrane Central Register of Controlled Trials, PubMed, World Health Organization International Clinical Trials Registry Platform, EMBASE, and CINAHL. Bibliographies of identified papers were hand searched. Inclusion criteria: articles describing or assessing the use of OCT for visualising the AS. The authors excluded studies without an identified primary outcome variable. One author independently selected studies, extracted data, and assessed for risk of bias using PRISMA guidelines. This review included 82 studies, of which there were 11 cohort studies, 37 case series, 10 case studies, 21 comparative observational studies, and three non‐systematic review articles. Primary outcome variables included anterior chamber angle, angle opening distance, angle recess area, trabecular iris angle, trabecula‐iris space area, corneal thickness, tear meniscus height, tear meniscus area, tear meniscus volume, and the morphology of AS structures, including the ocular surface, blebs, flaps, and graft sites. This review attempts to encompass the breadth and depth of evidence for AS‐OCT in the arena of diagnostics, therapeutics, and prognostics. At the same time, it brings to light the dearth of high‐level evidence on this topic, suggesting the important role of randomised controlled trials and meta‐analyses for the future validation of this technology.     

Cataract surgery in patients with ocular surface disease: An update in clinical diagnosis and treatment

In this article we review essentials of diagnosis and management of ocular surface disease in patients who undergo cataract surgery. It is clearly shown that dry eye disease worsens following the cataract surgery in patients with prior history of ocular surface disease, Also new cases of dry eye might appear. Current strategies for the timely diagnosis and proper management of dry eye syndrome in the face of cataract surgery patients are mainly emphasized. To achieve the best outcome in cataract surgery, a healthy ocular surface is crucial. While ocular surface preparation is indispensable in patients with established ocular surface disease, it is also helpful in those with minimal signs or symptoms of surface disease. The current approach begins with early diagnosis and drastic management of ocular surface disease before cataract surgery using a stepwise regimen customized to each patient and disease severity. These measures are continued throughout and after the surgery.     

Effect of autologous platelet-rich plasma on persistent corneal epithelial defect after infectious keratitis

Purpose

Platelet-rich plasma (PRP) harbors high concentrations of growth factors related to the promotion of wound healing. We evaluated the efficacy of PRP eyedrops in the treatment of persistent epithelial defects (PEDs).

Methods

Autologous PRP and autologous serum (AS) were prepared from whole blood. The concentrations of transforming growth factor (TGF)-β1, TGF-β2, epidermal growth factor (EGF), vitamin A and fibronectin in the PRP and AS were analyzed and compared. The corneal epithelial healing efficacy of PRP was compared with that of AS in patients with PED induced by post-infectious inflammation.

Results

The concentrations of TGF-β1, TGF-β2, EGF, vitamin A and fibronectin in the PRP and AS were not statistically different. However, the concentrations of EGF in the PRP were significantly greater than in the AS. AS was used in 17 and PRP in 11 eyes of 28 patients. The healing rates of the corneal epithelia of the PRP-treated eyes were significantly higher than those treated with AS.

Conclusions

The PRP was effective in the treatment of PEDs. This may be attributable to its high concentration of platelet-contained growth factors, most notably EGF. PRP could be an effective, novel treatment option for chronic ocular surface disease.     

Anterior segment optical coherence tomography in eye injuries

Background  To evaluate the usefulness of anterior segment optical coherence tomography (AS OCT) for initial diagnosis and for monitoring treatment results in eye injury cases. Methods  We examined 38 eyes of 34 patients with different types of ocular injuries: penetrating injury (eight eyes), perforating injury (two eyes), intraocular foreign body (four eyes), ocular burn (nine eyes), contusion (13 eyes), and lamellar laceration (two eyes). The mean age of the patients was 33.8 years. AS OCT examination was performed at the initial visit, directly after injury, and repeated as treatment progressed. Both anterior chamber components and corneal pachymetry were evaluated. Results  Slit-lamp examination did not provide a clear diagnosis in three eyes after contusion because of a nontransparent cornea. In one case of a 44-year-old male patient, only corneal edema was noticed during slit-lamp examination, whereas AS OCT revealed Descemet’s membrane detachment. In a 17-year-old male patient with blood infiltrating the cornea, OCT revealed acute angle closure with a pupillary block. In patients with corneal burns, OCT was valuable for monitoring the corneal healing progress after amniotic membrane application. OCT was also useful for determining whether a lamellar or penetrating technique should be applied in patients that qualified for corneal transplantation. In patients with foreign bodies, AS OCT was helpful in establishing the localization and size of the foreign body. Conclusions  AS OCT is a very valuable tool in ophthalmic departments dealing with ocular trauma, for early diagnosis and for monitoring treatment progress. Financial disclosure: none.