论著

MAB21L2 基因变异致小眼畸形 2 例及 MAB21L1 和 MAB21L2 的基因型 - 表型的系统回顾研究

Two cases of microphthalmia caused by MAB21L2 gene mutation and a systematic review of genotypephenotype associations of MAB21L1 and MAB21L2

:75-83
 
目的:总结MAB21L2基因的变异和临床特点,并与高度同源的MAB21L1基因进行比较。 方法:对中山眼科中心临床基因数据库中MAB21L2基因变异患者进行基因型和表型分析,回顾性分析既往文献报道MAB21L2基因和高度同源基因MAB21L1变异的表型-基因型的关系。结果:在2个小眼畸形家系中发现2个MAB21L2基因杂合变异:先证者1携带已知变异c.151C>G/p.(Arg51Gly),患者双眼小眼畸形伴虹膜脉络膜缺损,伴骨关节屈曲。母亲携带相同杂合变异但表型正常;先证者2携带未报道的变异c.1042G>T/p.(Glu348*),左眼小眼畸形,右眼正常且无全身异常。结合文献回顾发现,在显性遗传模式下,80%的MAB21L2杂合致病变异(20/25)和100%的MAB21L1杂合致病变异(25/25)发生在氨基酸49-52 区域,导致小眼无眼或眼缺损异常(microphthalmia, anophthalmia or coloboma,MAC);携带该区域MAB21L2基因杂合突变的患者除MAC外,部分还伴骨骼关节发育异常(12/24,50%);杂合截短变异发生在MAB21L2基因可导致MAC(5/5,100%),而发生在MAB21L1则不致病。 结论:在2个小眼畸形家系中发现了MAB21L2因1个新致病变异和1个已知热点致病变异,通过文献综述比较和总结了MAB21L1MAB21L2基因的突变频谱以及基因型-表型相互关系,为此类基因缺陷导致遗传病的诊断和鉴别诊断提供依据。
Objective: To summarize the genetic variations and clinical features of the MAB21L2 and compare them with the highly homologous MAB21L1 gene. Methods: A genotype -genotype analysis was performed on the patients with MAB21L2 gene variants in the clinical genetic database of Zhongshan Ophthalmic Center, Sun Yat-sen University. A retrospective review was undertaken to analyze the phenotype-genotype correlations of MAB21L2 gene variants and the highly homologous MAB21L1 gene variants reported in the previous literature. Results: Two heterozygous MAB21L2 gene variants were identified in two families with microphthalmia: Proband 1 carried the known variant c.151C>G/p.(Arg51Gly), presenting with bilateral microphthalmia with iris-choroidal coloboma and flexion of joints. The mother carried the same heterozygous variant but had a normal phenotype. Proband 2 carried the unreported variant c.1042G>T/p.(Glu348*), manifesting as left-sided microphthalmia with a normal right eye and no other systemic abnormalities. Through literature review, we found that under a dominant inheritance pattern, 80% of heterozygous pathogenic MAB21L2 variants (20/25) and 100% of heterozygous pathogenic MAB21L1 variants (25/25) occurred in the amino acid region 49-52, resulting in microphthalmia, anophthalmia, and coloboma (MAC). Some patients with heterozygous MAB21L2 variants in this region exhibited additional skeletal and joint dysplasia (12/24, 50%). Heterozygous truncating variants in MAB21L2 led to MAC (5/5, 100%), while those in MAB21L1 were non-pathogenic. Conclusions: This study identified a novel pathogenic variant and a known hotspot pathogenic variant of MAB21L2 in two families with microphthalmia. Through a comprehensive literature review, we compared and summarized the mutation spectrums and genotype-phenotype correlations of MAB21L1 and MAB21L2 genes, providing valuable insights for the diagnosis and differential diagnosis of genetic diseases caused by these gene defects.
综述

手术治疗前段巨眼合并白内障:病例报道和文献综述

Cataract surgery in a patient with anterior megalophthalmos: a case report and literature review

:454-461
 
前段巨眼(anterior megalophthalmos, AM)是一种罕见的双侧非进展性先天性眼前段增大疾病,表现为大角膜(直径≥ 12.5 mm)、前房极深、角膜厚度正常或轻中度变薄和睫状环扩大等。并发性白内障以及晶状体脱位是导致AM视力下降的主要原因。然而,解剖结构的异常使AM白内障手术具有很大的挑战性。文章报道了一例AM合并白内障的48岁男性患者,成功为其行手法小切口白内障摘除联合人工晶状体(intraocular lens, IOL)一期植入术,患者术后视力恢复良好,IOL位置居中,未出现较大的屈光误差。对该典型AM病例的临床特点以及手术难点的回顾总结,有助于加深广大眼科临床工作者对该疾病的认识。
Anterior megalophthalmos is a rare congenital enlargement of the anterior segment, characterized by bilateral nonprogressive megalocornea (diameter ≥12.5 mm), extremely deep anterior chamber, normal or moderate thinning of the cornea, and elongation of the ciliary ring. Cataract and lens dislocation are the main causes of decreased vision in patients with AM. However, cataract surgery on patients with AM are challenging due to the anatomical abnormalities. This case reports a 48-year-old male patient diagnosed with AM and cataract, who successfully underwent a manual small incision cataract extraction combined with intraocular lens implantation. Finally, our patient showed a good visual outcome with a well centered IOL and without obvious refractive error. In this typical AM case, we reviewed and summarized the clinical characteristics and the challenges of surgical treatment so that other ophthalmologists can learn about this disease.
论著

Hallermann-Streiff 综合征继发青光眼:病例系列报告与文献回顾

Glaucoma in Hallermann-Streiff syndrome: case series report and literature review

:188-198
 
目的:分析Hallermann-Streiff综合征(Hallermann-Streiff syndrome,HSS)继发性青光眼的临床表现,探讨其治疗方法。方法:采用病例系列研究与文献回顾方法,记录3例确诊为HSS继发性青光眼患者的视力、眼压、裂隙灯、超声生物显微镜、相干光断层扫描、角膜地形图、A超、B超、X线眼眶大小测量等检查结果。随访患者药物治疗、周边虹膜切除术、小梁切除术或青光眼阀植入术的疗效。结果:3例患者年龄分别为9、29和47岁,其中女性2例、男性1例。最佳矫正视力为0.04-0.5,平均屈光度为+12.1D,平均眼压为37.7 mmHg,平均角膜直径为9.1 mm,平均中央前房深度为2.43 mm,平均眼轴长度为18.13 mm,角膜地形图示平均K1值为56.97 D,平均K2值为60.65 D。眼眶水平径为28.86~31.40 mm,垂直径为30.16~32.90 mm。2例年轻患者为无晶状体眼,伴葡萄膜炎、瞳孔区纤维膜、视盘旁脉络膜萎缩弧。年长患者表现为蓝色巩膜、白内障、房角关闭,眼底表现为青光眼性视杯凹陷。3例患者平均身高143 cm,伴头发及眉毛稀疏、额头前凸、鼻子呈喙状、牙齿发育不全、下颌发育不全。术后平均随访47.7个月(范围:11~84个月),眼压控制,视力与术前一致,无治疗相关并发症出现。结论:HSS继发性青光眼的眼部病变可表现为小眼眶、小眼球、小角膜、蓝色巩膜、无晶状体、瞳孔区纤维膜、葡萄膜炎、继发性青光眼及视盘旁脉络膜萎缩。对HSS继发性青光眼的患者,个性化地选择治疗方案,可以获得较好的治疗效果。
Objective: To demonstrate the clinical characteristics and surgical effects of glaucoma in Hallermann-Streiff syndrome(HSS). Methods: Observational case series and literature review. The results of ophthalmic examinations of three patients diagnosed as glaucoma with HSS were recorded, including visual acuity, intraocular pressure (IOP), slit-lamp microscopy, ultrasound biomicroscopy, optical coherence tomography, corneal topography, A-scan and B-scan ultrasonography, and orbital size measurement by X-ray. Peripheral iridectomy, glaucoma drainage device implantation or trabeculectomy, were performed in these patients. Results: Three HSS patients were 9, 29 and 47 years old, respectively, including 2 females and 1 male. The best corrected visual acuity was 0.04-0.5. The mean spherical equivalent refraction was +12.1 D. The average IOP was 37.7 mm Hg, and the average corneal diameter was 9.1 mm. The average central anterior chamber depth was 2.43mm. The average axial length was 18.13mm. Keratometry showed average K1 of 56.97 degrees, and K2 of 60.65 degrees. Two younger patients were aphakic bilaterally with uveitis, pupillary fibrous membrane and peripapillary choroidal atrophy. The older patient showed blue sclera, cataract, and anterior chamber angle closure. The horizontal orbital diameter was 28.76-31.40 mm, and vertical orbital diameter was 30.16-32.90 mm. All patients were proportionate nanism, with an average height of 143 cm. Craniofacial manifestations included dyscephalia and “bird-like” face, hypotrichosis, dental anomalies, and mandibular hypoplasia. They were followed up for an average of 47.7 months(range:11-84 months) after surgery. The IOPs were all controlled, and the visual acuities remained unchanged. No treatment-related complications occurred. Conclusions: HSS patients with glaucoma may present as small orbit, microphthalmia, microcornea, blue sclera, aphakia, pupillary fibrous membrane, uveitis, with atrophic chorioretinal changes. For these patients, personalized treatment may help to achieve better therapeutic effects.
综述

脑卒中后视野缺损患者干预方案范围综述

Intervention plan for visual field defects in patients with stroke: a scoping review

:462-470
 
目的:系统分析脑卒中后视野缺损患者干预方案的相关研究,识别、归纳及总结干预的具体内容、结局指标和干预效果,为临床实践及未来该领域研究提供参考。方法:采用范围综述研究框架,系统检索中国知网、维普数据库、万方数据库、中国生物医学文献数据库、PubMed、Web of Science、Embase、CINAHL、Cochrane Library共9个数据库。检索时限为建库至2024年4月10日。对纳入文献进行筛选、汇总和分析。结果:最终纳入12篇文献,总结脑卒中后视野缺损患者干预方法及结局指标,干预方法包括替代性干预、补偿性干预、恢复性干预等,结局指标包括日常生活活动能力、日常生活扩展活动能力、阅读表现、视野检查等。结论:目前针对脑卒中后视野缺损患者的干预方案内容多样化、证据质量较低、结局指标不统一,有待进一步开展高质量研究探索最佳训练计划和规范结局指标。未来应不断改进、优化康复策略,建立最佳的多学科结构,制定科学、系统、个性化方案。
Objective: To systematically analyze the related studies on intervention schemes for patients with visual field defects after stroke, and to identify, summarize, and summarize the specific content, outcome indicators, and intervention effects, thereby providing a reference for clinical practice and future research in this field. Methods: Utilizing the scoping review method, a systematic search was conducted in 9 databases: CNKI, CQVIP, Wanfang Database, China Biomedical Literature Database, PubMed, Web of Science, Embase, CINAHL and the Cochrane Library. The search encompassed the period from the inception of each database to April 10, 2024. The selected literature was subsequrently screened, summarized, and analyzed. Results: A total of 12 articles were finally included, summarizing the intervention methods and outcome indicators for patients with visual field defects after stroke. The intervention methods comprised alternative intervention, compensatory intervention, and rehabilitative interventions. Outcome indicators include daily living activities, daily living extended activities, reading performance and visual field examination. Conclusion: Current intervention schemes for patients with visual field defects after stroke exhibit diverse content, charaterized by low evidence quality and inconsistent outcome indicators. Further high-quality research is needed to explore optimal training plans and standardize the outcome indicators. In the future, continuous improvement and optimization of rehabilitation strategies should be carried out to establish the best multidisciplinary framework and formulate scientific, systematic and individualized plans.
综述

基于眼科前沿技术研究和发展的综述

A review of cutting-edge research and development in ophthalmology

:153-159
 
数字眼科技术的蓬勃发展已经渗透于眼科各领域,并为眼科前沿技术研究带来了重大变革。文章对眼科前沿技术研究和发展进行综述,重点关注各项技术的突破和成果,聚焦国内的同时也放眼全球,阐明近年来全球数字眼科前沿技术现状和成果。如人工智能可运用于诸多疾病的精准监测、高发疾病的高效评估、远程医疗的技术支持等,提高了筛查、诊断、治疗等各环节的精确度和效率,减轻了医生的负担,展现了极大的应用潜能。其余各类技术方面,如数字成像技术也取得了飞跃式进展,在手术导航和影像诊断方面实现突破;3D建模技术和机器学习技术在手术设计和提高手术成功率方面立下汗马功劳,为世界各地的眼科疾病患者提供了更为高效、便捷的服务。此外,数字眼科技术还呈现出多元化发展的态势,与多学科协同交流,交叉运用。虽然诸多眼科前沿技术还处在发展初期,距离全覆盖实施仍有一定距离,在算法的准确性和可解释性、医疗伦理、民众接受度、医疗纠纷、临床技术挑战等问题上还存在很多不确定性。但毫无疑问的是,随着医学水平的日益提升,上述技术必会得到不断完善和普及。
The rapid evolution of digital ophthalmology technology has profoundly transformed various fields within ophthalmology. This article provides a comprehensive overview of the research and advancements in cutting-edge ophthalmology technologies, emphasizing both domestic and global breakthroughs and achievements. For instance, artificial intelligence has demonstrated remarkable potential in precise monitoring of various diseases, efficient assessment of high-prevalence conditions, and the technological support for telemedicine, thereby enhancing the accuracy and efficiency of screening, diagnosis, treatment processes, while alleviating the workload of medical professionals. Additionally, digital imaging technology has made significant strides in surgical navigation and diagnostic imaging, while 3D modeling and novel machine learning techniques have contributed to surgical planning and enhanced surgical success rates, ultimately delivering more efficient and convenient services to patients with eye diseases worldwide. Despite the diversified development trends and interdisciplinary collaborations that digital ophthalmology technology exhibits, many of these cutting-edge technology are still in their infancy, facing challenges in achieving high coverage, algorithm accuracy and interpretability, medical ethics, public acceptance, medical disputes, and clinical technical hurdles. Nonetheless, while the continuous advancement of medical standards, it is anticipated that these technologies will undergo further refinement and widespread adoption.
论著

双眼复视病例系列报道及文献回顾

Case series of binocular diplopia and literature review

:206-213
 
目的:回顾性分析以双眼复视为主要症状患者的病因及临床特点。方法:总结2021年1月至2022年3月就诊于潍坊医学院附属医院神经眼科的双眼复视患者的临床资料,分析其病因及临床特点。结果:共29例患者,男16例,女13例,年龄17岁~81岁,平均(59±14)岁;其中血管性因素8例,包括脑血管病5例,后交通动脉瘤2例,核间性眼肌麻痹1例;炎症、免疫性因素8例,包括重症肌无力4例,Tolosa-Hunt综合征2例,肥厚性硬脑膜炎1例,炎性假瘤1例;内分泌因素9例,包括糖尿病外周神经病变5例,甲状腺相关眼病4例;肿瘤2例,包括动眼神经鞘瘤1例,眼眶MALT淋巴瘤1例,外伤2例。结论:双眼复视的病因复杂,临床医生应重视筛查全身疾病,参照先定位,后定性原则,提高诊断正确率、减少误诊率。
Objective: The etiology and clinical characteristics of patients with binocular diplopia as main symptom were investigated using retrospective analysis method. Methods: The clinical data of patients with binocular diplopia treated in department of ophthalmolog y, affiliated hospital of Weifang Medical University from January 2021 to March 2022 was summarized and the etiology and clinical characteristics retrospectively. Results: There were totally 29 patients, 16 males and 13 females, aged from 17 to 81 years, with an average of (59 ± 14) years; among them, there were 8 cases derived from vascular factors, including 5 cases with cerebrovascular disease, 2 cases with posterior communicating artery aneurysm and 1 case with internuclear ophthalmoplegia. There were 8 cases derived from inflammatory and immune factors, including 4 cases with myasthenia gravis, 2 cases with Tolosa-Hunt syndrome, 1 case with hypertrophic meningitis and 1 case with inflammatory pseudotumor. There were 9 cases derived from endocrine factors, including 5 cases with peripheral neuropathy in diabetes and 4 cases with thyroid related ophthalmopathy. There were 2 cases derived from tumors, including 1 case with oculomotor schwannoma, 1 case with orbital MALT lymphoma and there were 2 other cases of trauma. Conclusions: The etiology of binocular diplopia is complicated and the clinicians should pay attention to the screening of systemic diseases of patients refer to the principle of localization diagnosis first and qualitative analysis next so as to improve the diagnostic accuracy and reduce the misdiagnosis rate.
综述

腰椎感染致双眼内源性眼内炎一例及文献回顾

Endophthalmitis caused by lumbar infection: a case report and literature review

:481-488
 
内源性真菌性眼内炎(endogenous fungal endophtalmitis, EFE)是最具破坏性的眼部感染之一,在临床上较少见。如诊断和治疗不及时,可严重损害患者视力,甚至需摘除眼球。由于EFE发病隐匿,病程较长,病原学涂片和培养阳性率较低,早期临床症状与葡萄膜炎相似,极易被误诊和漏诊,延误治疗时机。EFE最常见的感染灶来源为肝脏、肺、尿路、脑膜炎、胃肠道、心内膜以及骨髓。文章报道了一例腰椎感染致双眼内源性念珠菌性眼内炎的男性患者,66岁,因“右眼视力下降1周”首诊于眼科,专科检查见右眼玻璃体炎性混浊,初诊为右眼葡萄膜炎,予抗炎等治疗症状无好转,右眼视力持续下降,右眼前房穿刺抽液送检提示:热带念珠菌感染,之后左眼视力也逐渐下降,加之患者近期于骨科住院,术中腰椎间盘退变的纤维软骨组织DNA-病原微生物宏基因组检测结果示热带念珠菌,考虑双眼EFE,予全身及局部使用抗真菌药物联合双眼玻璃体切割手术,治疗后患者视力恢复良好,随访1年无复发。该病例及相关文献回顾,有助于加深临床医生对此类疾病的认识,为今后临床诊疗提供一定思路,也起到一定警示作用。
Fungal endophthalmitis is one of the most destructive eye infections and is relatively rare in clinical practice.If not diagnosed and treated promptly, it can severely damage vision and even lead to enucleation.Due to its insidious onset, long course, low positive rates in smears and cultures, and early clinical symptoms similar to uveitis, it is prone to misdiagnosis and missed diagnosis, leading to delayed treatment. A review of the literature indicates that the most common sources of EFE infection are the liver, lung, urinary tract, meningitis, gastrointestinal tract, endocarditis and osteomyelitis.In this paper, we report a case of lumbar spine infection causing bilateral candidal endophthalmitis in a 66-year-old male patient.He initially presented to the ophthalmology department of our hospital with a one-week history of decreased vision in the right eye, specialized examination revealed inflammatory opacity in the vitreous of the right eye, initially diagnosed as uveitis and treated with anti-inflammatory therapy without improvement.As the vision in the right eye continued to decline, aqueous humor aspiration from the anterior chamber of the right eye indicated infection with tropical Candida.Subsequently, the vision in the left eye also gradually decreased.Considering the recent hospitalization in the orthopedic department for lumbar disc degeneration, metagenomics analysis of fibrous cartilage tissue DNA during surgery detected tropical Candida, suggesting bilateral endogenous fungal endophthalmitis,The patient was treated with systemic and local antifungal medications in combination with bilateral vitrectomy surgery.After treatment, the vision recovered well, and there was no recurrence during a one-year follow-up.The objective of this thesis is to deepen the understanding of clinicians on this type of disease by reporting this case and reviewing relevant literature, providing some insights for future clinical diagnosis and treatment, and serving as a warning.
论著

眼科成人日间手术患者病区护理管理的最佳证据总结

Nursing management of ophthalmic postoperative adult intra-day ward: a systemic review

:571-579
 
目的:评价并汇总眼科成人日间手术患者病区护理管理的最佳证据,提高临床护理质量。方法:检索国内外数据库建库至2022年6月的日间手术患者病区护理管理的相关证据,包括系统评价、临床决策、证据总结、指南及专家共识。由2名研究人员独立对文献进行质量评价后,根据主题对证据进行提取和汇总。结果:根据纳入标准,共筛选出13篇文献,包括5篇专家共识、3篇证据总结、1篇循证实践、2篇系统评价、1篇指南。通过文献阅读、证据提取和归类,从日间手术护士准入资质、制定临床护理路径、院前管理、病历标准化、手术当日术前管理、术后管理、出院评估、康复及随访指导8个方面形成17条最佳证据。结论:该项目总结了眼科成人日间手术患者病区护理管理的最佳证据,可为护理管理者制定眼科日间手术病区流程方案、实践标准提供循证依据。
Objective: To evaluate and summarize the evidences of nursing management of ophthalmic postoperative adult patients intra-day ward, and improve the quality of clinical nursing. Methods: The related databases were searched from the  establishment to June 2022. The searching contents include systematic review, clinical decision-making, evidence  summary, guidelines and expert consensus on nursing management in postoperative patients intra-day wards at home  and aboard. Based on the theme, the evidences were extracted and summarized after independent literature quality  evaluation was conducted by 2 researchers. Results: Base on the inclusion criteria, a total of 13 pieces of literature were  selected, including 5 expert consensus, 3 evidence summaries, 1 evidence-based practice, 2 systematic reviews and 1  guideline. Through literature review, evidence extraction and classification, a total of 17 pieces of evidence on 8 aspects  were summarized, including admission qualifications for daytime surgical nurses, development of clinical nursing path,  pre-hospital management, medical record standardization, preoperative management on the day of surgery, postoperative  management, discharge assessment, rehabilitation and follow-up guidance. Conclusion: This article summarized the  best evidence of nursing management for ophthalmic adult day surgery patients in intra-day ward,to provide scientific  evidences for nursing managers to develop ophthalmic intra-day ward guidelines and practical standards.
论著

NMOSD合并HIV感染/AIDS的诊疗:病例报告并文献复习

Diagnosis and treatment of NMOSD associated with HIV infection/AIDS: case report and literature review

:214-224
 
报告一例视神经脊髓炎谱系疾病(neuromyelitis optica spectrum disorders,NMOSD)合并人体免疫缺陷病毒(human immunodeficiency virus,HIV)感染/获得性免疫缺陷综合征(acquired immune deficiency syndrome,AIDS),并通过文献复习,总结其发病机制、临床特征、治疗及预后。检索文献包括7篇英文文献(8个病例),1篇中文文献,共报道9例NMOSD合并HIV感染/AIDS病例,结合本文报道的1例共10例,其中5例为女性,5例为男性,3例HIV感染/AIDS为新发,其他病例的HIV感染/AIDS发病均早于NMOSD。临床表现上,7例均为视神经炎和脊髓炎同时或相继发生,2例表现为单相病程或复发性脊髓炎,1例仅表现为双眼相继发生的视神经炎,10例患者头或脊髓MRI均有典型的视神经或脊髓异常信号,伴或不伴强化。2例患者未进行水通道蛋白4(aquaporin protein-4,AQP4)抗体IgG检测,其余8例中5例AQP4抗体阳性、3例阴性。针对AIDS的治疗,10例患者中,8例接受了高效抗逆转录病毒治疗(highly active antiretroviral therapy,HAART)。针对NMOSD的治疗,10例患者中,急性期有8例患者接受糖皮质激素冲击治疗、3例患者接受血浆置换、2例接受丙种球蛋白治疗,序贯治疗期有6例患者接受免疫抑制剂治疗,其中1例因高胆红素血症停药。发生视神经炎的7例中,2例患者经治疗仍失明、5例视力部分恢复,发生脊髓炎的8例中,5例患者遗留截瘫或轻瘫、3例肌力部分恢复。1例因严重并发症去世。NMOSD合并HIV感染/AIDS临床较罕见,预后差,往往遗留严重的视力障碍及瘫痪等,临床治疗较为棘手,糖皮质激素和免疫抑制剂并非使用禁忌证,但制定治疗决策前需要充分考虑风险与获益的平衡。
A case of neuromyelitis optica spectrum disorders(NMOSD) complicated with human immunodeficiency virus(HIV) infection/acquired immunodeficiency syndrome(AIDS) was reported, and the pathogenesis, clinical characteristics, treatment and prognosis were summarized through the literature review. The retrieved literatures included seven English literatures (eight cases) and one Chinese literature, in which a total of nine cases of NMOSD co-infected with HIV infection/AIDS were reported. Combined with the case reported in this paper, the total number of cases was ten, among which five cases were female and five cases were male, three cases of HIV infection/AIDS were newly developed, and the other cases had earlier onset of HIV infection/AIDS than NMOSD. In terms of clinical manifestations, seven cases all had simultaneous or sequential optic nerve and myelitis, two patients presented with a uniphasic course or recurrent myelitis, and one case presented only with bilateral optic neuritis occurring sequentially in both eyes. All ten patients had typical abnormal signals of the optic nerve or spinal cord with or without enhancement on cranial or spinal MRI. Two patients did not undergo AQP4 antibody IgG testing , and of the remaining seven cases, five were positive for AQP4 antibodies and three were negative. For AIDS treatment, eight of the ten patients received highly active antiretroviral therapy(HAART). For NMOSD treatment, among the ten patients, eight patients received intravenous methylprednisolone,three patients received plasmapheresis, and two patients received intravenous immunoglobulin in the acute phase. Six patients received immunosuppressive therapy during the sequential treatment period, and one of them was discontinued due to hyperbilirubinemia. Of the seven cases with optic neuritis, two patients remained blind after treatment and five had partial recovery of vision. Of the eight cases with myelitis, five patients were left with paraplegia or mild paralysis, and three had partial recovery of muscle strength. One case died due to serious complications.NMOSD combined with HIV infection/AIDS is rare in clinic and has a poor prognosis. Patients are often left with severe visual impairment and paralysis. Clinical treatment is quite difficult, hormones and immunosuppressive agents are not considered as contraindications. Treatment decisions need to be made with fully considered about the balance of risks and benefits.
封面简介

手术治疗前段巨眼合并白内障:病例报道和文献综述

Cataract surgery in a patient with anterior megalophthalmos: a case report and literature review

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前段巨眼(anterior megalophthalmos, AM)是一种罕见的双侧非进展性先天性眼前段扩大疾病,表现为大角膜、角膜厚度正常或轻中度变薄、前房明显加深、睫状环扩大和悬韧带松弛。早期症状可仅表现为角膜散光和屈光不正等,并发性白内障和晶状体脱位是AM患者视力下降的主要原因。眼前段解剖结构的异常使AM患者的白内障手术具有很大的挑战性。首先,极端前房深度引起的有效晶状体位置(ELP)预测误差及公式选择不当是导致其术后较大屈光误差的主要原因;其次,悬韧带松弛易导致晶状体脱位、后囊膜破裂和玻璃体脱出等术中并发症的发生;由于超大囊袋及悬韧带松弛,人工晶状体(IOL)偏心甚至脱位也是术后常见的并发症。因此,需根据患者悬韧带情况、晶状体混浊程度采取合适的手术方式及谨慎选择IOL的类型。采用手法小切口晶状体囊外摘除术,可避免超声乳化的高灌注压对悬韧带的进一步损伤,增加手术的安全性;植入光学面及襻宽大的IOL术后具有较好的稳定性;新公式如Barrett Universal Ⅱ、Kane和EVO等公式具有较好的屈光预测准确性。然而,目前关于AM患者的白内障手术治疗报道仍属于个案报道,未来还需要更大样本量的临床研究进一步证实。
前段巨眼(anterior megalophthalmos, AM)是一种罕见的双侧非进展性先天性眼前段扩大疾病,表现为大角膜、角膜厚度正常或轻中度变薄、前房明显加深、睫状环扩大和悬韧带松弛。早期症状可仅表现为角膜散光和屈光不正等,并发性白内障和晶状体脱位是AM患者视力下降的主要原因。眼前段解剖结构的异常使AM患者的白内障手术具有很大的挑战性。首先,极端前房深度引起的有效晶状体位置(ELP)预测误差及公式选择不当是导致其术后较大屈光误差的主要原因;其次,悬韧带松弛易导致晶状体脱位、后囊膜破裂和玻璃体脱出等术中并发症的发生;由于超大囊袋及悬韧带松弛,人工晶状体(IOL)偏心甚至脱位也是术后常见的并发症。因此,需根据患者悬韧带情况、晶状体混浊程度采取合适的手术方式及谨慎选择IOL的类型。采用手法小切口晶状体囊外摘除术,可避免超声乳化的高灌注压对悬韧带的进一步损伤,增加手术的安全性;植入光学面及襻宽大的IOL术后具有较好的稳定性;新公式如Barrett Universal Ⅱ、Kane和EVO等公式具有较好的屈光预测准确性。然而,目前关于AM患者的白内障手术治疗报道仍属于个案报道,未来还需要更大样本量的临床研究进一步证实。
其他期刊
  • 眼科学报

    主管:中华人民共和国教育部
    主办:中山大学
    承办:中山大学中山眼科中心
    主编:林浩添
    主管:中华人民共和国教育部
    主办:中山大学
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  • Eye Science

    主管:中华人民共和国教育部
    主办:中山大学
    承办:中山大学中山眼科中心
    主编:林浩添
    主管:中华人民共和国教育部
    主办:中山大学
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