2023年5月 第38卷 第5期

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
专家述评

重视全身疾病的眼部表现

Attach importance to ocular manifestations of systemic diseases

:365-370
 
眼可受全身系统性疾病的累及,通过眼部表现可对心血管系统性疾病、神经系统疾病、自身免疫性疾病、感染性疾病及药物相关眼病等全身疾病进行评估、协助诊断和随访观察。重视全身疾病在眼部的表现,对于眼科及相关专业临床诊疗水平的提升具有重要意义。
Eyes can be affected by systemic diseases. Ocular manifestations can be used to evaluate, help to diagnose and observe systemic diseases including cardiovascular diseases, neurological disorders, autoimmune diseases, infectious diseases and drug-related eye diseases. Paying attention to the manifestations of systemic diseases in the eye is of great significance for the improvement of clinical diagnosis and treatment in ophthalmology and related specialties.
论著

多发性大动脉炎的临床特点及眼部表现

Clinical characteristics and ocular manifestations of multiplex Takayasu arteritis

:371-380
 
目的:探讨多发性大动脉炎的全身表现及眼部临床表现,提高眼科医生对大动脉炎的诊治能力。法:采用回顾性病例系列研究。收集2018年3月至2022年5月山东第一医科大学附属省立医院风湿免疫科确诊后、经眼科会诊或治疗的大动脉炎患者14例,总结患者的全身表现、眼部临床表现及治疗结果。结果:14例多发性大动脉炎患者中,男性1例、女性13例,年龄(35.57±9.77)岁。其中,Ⅰ型头臂动脉型7例(50%),Ⅱ型胸腹主动脉型2例(14.3%),Ⅲ型肺动脉型0例,Ⅳ型广泛型5例(35.7%)。85.7%病例累及头臂动脉干。患者全身表现多样,最常见的是上肢低血压相关表现,4例发生严重的心脑血管并发症(28.6%)。5例(35.6%)患者以眼部症状为首发表现,3眼曾误诊为“白内障”(21.4%)。患者最佳矫正视力为无光感~1.0,其中,21眼最佳矫正视力为1.0(占75%),4眼最佳矫正视力<0.1(占14.3%)。眼部检查正常者4眼(14.3%),其余24眼(85.7%)均存在眼部异常。晶体异常、结膜巩膜血管扩张充血及瞳孔散大是最常见的眼前节表现。眼底表现以低灌注性视网膜病变为主(20眼,71.4%),高血压视网膜病变4眼(14.3%)。与Ⅱ型患者比较,Ⅰ型患者更容易发生低灌注性视网膜病变。缺血导致的异常动静脉交通及视盘旁花冠状血管是最典型的眼底表现,严重者导致新生血管形成、增殖性玻璃体视网膜病变和视网膜脱离。所有患者经糖皮质激素和免疫抑制剂治疗,眼部行视网膜光凝及抗血管内皮生长因子(anti-vascular endothelial growth factor,anti-VEGF)药物治疗后,3眼视网膜病变仍有进展,其余患者病情稳定。结论:发性大动脉炎是一种临床相对比较少见的慢性血管炎性阻塞性病变,年轻女性多发。本组病例以累及头臂动脉干为主,眼部受累概率高,缺血性眼前节表现是较容易被识别的体征,低灌注性视网膜病变是最典型的眼底表现,并可能引发严重的眼部并发症。眼科医生应提高对多发性大动脉炎的认识和诊断能力,并重视对大动脉炎患者的详细眼部检查。
Objective: To discuss the systemic and ocular manifestations of patients with multiplex Takayasu arteritis (TA) and improve the ability of ophthalmologists to diagnose and treat TA. Methods: Retrospective case series study was used. From March 2018 to May 2022, a total of 14 TA patients were admitted to the Department of Rheumatology and Ophthalmology in Shandong Provincial Hospital Affiliated to Shandong First Medical University. They were diagnosed by ophthalmology consultation and treated in the Department of Rheumatology and Immunology. Their systemic manifestations, ocular clinical manifestations, and treatment outcomes were summarized. Results: There were 13 female patients and 1 male patient in our TA cohot. Mean age was (35.57±9.77) years. The most common classification of TA was 7 cases of type I (50%). Others were type II (2 cases of Abdominal aorta and/or renal arteries involved, 14.3%) and 5 cases of type IV (combination of type I and type II, 35.7%), 0 cases of type III. The most common location of involvement was brachiocephalic arterial trunk (85.7%). TA patients had a variety of systemic manifestations, the most common was upper extremity hypotension-related manifestations. Severe cardiovascular and cerebrovascular complications occurred in 4 patients (28.6%). Ocular abnormal was the initial manifestation in 5 patients (35.6%), and 3 eyes were misdiagnosed as cataract (21.4%). Best corrected visual acuity (BCVA) of the TA patients was -1.0 with no light perception, among with 21 eyes had 1.0 (75%) and 4 eyes had a BCVA less than 0.1 (14.3%). Only 4 eyes were totally normal (14.3%) and the remaining 24 eyes (85.7%) had ocular abnormalities. Lens opacity, chronic scleral hyperemia and dilated pupil were the most frequent manifestations in ocular anterior segment. Fundus manifestations were dominated by hypoperfusion retinopathy (20 eyes, 71.4%) and 4 eyes suffered from hypertensive retinopathy (14.3%). Patients with Type I had a higher prevalence for developing hypoperfusion retinopathy than type II patients. Ischemia-induced fiscrete arteriovenous shunt and wreath-like anastomosis around the optic disc were the most typical fundus manifestations. Retinal neovascularization, proliferative vitreoretinopathy and retinal detachment were the most serious retinal complications. Corticosteroids and immunosuppressive agents were administered in all the patients. Most of the patients remained stable, while progression of retinopathy still could be seen in 3 eyes even after pan-retinal photocoagulation and intravitreal injection of anti-VEGF drug treatemnt. Conclusions: TA is a relatively rare chronic vasculitic obstructive lesion that occurs more often in young women. This group of cases mainly involved brachiocephalic artierial trunk. TA has a high possibility of ocular involvement and may lead to various ocular abnormalities. Anterior segment manifestations secondary to ischemia were the relative recognizable signal for diagnosis of TA. Hypoperfusion retinopathy was the most common fundus manifestations, and might cause serious ocular complications. Ophthalmologists should improve awareness and diagnostic capacity for multiple TA and value the detailed eye examination of TA patients.

内下壁减压联合脂肪减压治疗中重度甲状腺相关眼病的疗效观察

Medial-inferior wall orbital decompression combined with fat decompression in the treatment of moderate-to-severe thyroid associated ophthalmopathy

:381-386
 
目的:中重度甲状腺相关眼病内下壁骨性减压联合脂肪减压术的临床疗效观察。方法:回顾性分析25例(31眼)在浙江大学医学院附属第二医院眼科行内下壁骨性减压联合脂肪减压术治疗的甲状腺相关眼病患者,观察时间为2020年1月至2022年1月。术前所有患者均进行了眼眶CT检查,并对双眼视力、眼球突出、复视及双眼外观形态进行了测量。手术效果评价指标为:术后眼球突出度、视力和复视程度,并对相关数据进行统计和分析。结果:术后眼球突出度回退2~6 mm,平均回退(3.45±0.93)mm,切除眶内脂肪1.4~3.6 mL,平均切除(2.33±0.66)mL,外观恢复满意。4例患者术前存在复视,2例患者术后新发复视,术前已存在复视的患者,术后复视程度并未加重,新发的2例复视患者均为轻度复视。术后CT检查显示眼眶减压效果良好。结论:内下壁骨性减压与脂肪减压术联合,可以有效扩大眼眶容积,对眼球进行回纳,减少眼球突出程度,改善容貌外观,且手术切口隐蔽美观,具有较好的临床疗效果。
Objective: To observe the clinical efficacy of medial-inferior wall orbital decompression combined with fat decompression in the treatment of moderate-to-severe thyroid associated ophthalmopathy (TAO). Methods:retrospective analysis was performed on 25 patients (31 eyes) with moderate-to-severe TAO from January 2020 to January 2022 in Eye Hospital of Zhejiang University, who were treated with medial-inferior wall orbital decompression combined with fat decompression. All of patients were given orbital computed tomography to measure visual acuity, exophthalmos, diplopia and ocular appearance before operation. The preoperative and postoperative exophthalmos, visual acuity and diplopia before and after operation were taken as efficacy evaluating indicators. The related data was counted and analyzed statistically. Results: After operation, the reduction of exophthalmos was 2-6 mm, with an average of (3.45±0.93) mm, the volume of intrazonal fat-removal was 1.4-3.6 mL, with an average of (2.33±0.66) mL, with a satisfactory appearance. There were 4 cases of preoperative diplopia and 2 cases of new diplopia after operation, all of which were mild diplopia. Diplopia did not exacerbate after operation in the patients who had diplopia before operation. Conclusion: Medial-inferior wall orbital decompression combined with fat decompression in the treatment of moderate-to-severe TAO can effectively expand orbital volume, reduce exophthalmos, improve appearance with a concealed beautiful surgical incision, showing its good clinical efficacy.

Purtscher样视网膜病变的临床观察

Clinical observation of Purtscher-like retinopathy

:387-393
 
Purtscher样视网膜病变是一种少见的视网膜血管性疾病,该文分析了13例Purtscher样视网膜病变的临床特征。典型的眼底表现包括 Purtscher斑22眼、棉絮斑22眼、视网膜出血13眼、黄斑水肿22眼、视盘水肿12眼和假樱桃红斑10眼。荧光素血管造影异常表现包括毛细血管无灌注区21眼,毛细血管前闭塞22眼。13例患者中有9例使用糖皮质激素、免疫抑制剂,4例使用改善循环、营养神经等治疗。随访2周至5年,4例患者(6眼)在随访期间出现神经上皮萎缩并持续低矫正视力(<0.1)。基于文献回顾,讨论了Purtscher样视网膜视力恢复不佳可能与黄斑水肿及无灌注区形成有关。
Purtscher-like retinopathy is a rare retinal vascular disease. In this study,the clinical characteristics of 13 cases of Purtscher-like retinopathy were analyzed. Typical fundus abnormalities included Purtscher flecken (22 eyes), cotton-wool spots (22 eyes), retinal hemorrhages (13 eyes), macular edema (22 eyes), swelling of optic disk (12 eyes), and falsecherry red spots (10 eyes). The abnomal manifestations of fluorescein angiography included non perfusion area of capillaries (21 eyes), and precapillary occlusion (22 eyes). Among 13 patients, 9 patients were treated with glucocorticoids and immunosuppressive drugs, and 4 patients were treated with circulation-improving and neurotrophic drugs. During the follow-up period of two months to five years, four patients (six eyes) experienced neuroepithelial atrophy and persistent low vision (<0.1). Based on literature review, we proposed that the prognosis of vision in Purtscher-like retinopathy may be associated with macular edema and the formation of capillary non-perfusion.

肺炎克雷伯菌性眼内炎在糖尿病人群中的特点及预后分析

Characteristics AND prognosis of Klebsiella pneumoniae endophthalmitis in diabetic patients

:394-399
 
目的:分析肺炎克雷伯菌导致内源性眼内炎在糖尿病患者中的临床特征,总结治疗经验及评估其预后。方法:回顾性病例分析2019年1月至2022年3月期间就诊于山东中医药大学附属眼科医院的肺炎克雷伯菌导致的内源性眼内炎糖尿病患者7例(8眼)。分析其年龄、性别、感染灶来源、就诊时间、治疗前后视力、眼压、裂隙灯检查、眼底检查、眼科B超、治疗方式、感染控制及复发情况。结果:7例患者年龄(63±17.6)岁。男性5例(71.4%),女性2例(28.6%)。术后7眼(87.5%)视力NLP,1眼(12.5%)LogMAR视力0.2。视力与患者就诊时间及就诊时视力有关。6例(85.7%)就诊前发热。8眼(100%)结膜混合充血,1眼(12.5%)前房积脓。7眼(87.5%)行玻璃体切割术联合玻璃体腔注药术,1眼(12.5%)行单纯玻璃体腔注药术。8眼感染均控制,无眼球摘除。随访期间眼压正常,无感染复发。结论:肺炎克雷伯菌是内源性眼内炎的主要致病菌,易在糖尿病人群中发生。发病迅速进展快,早期临床表现不典型易被误诊,其预后和病程的长短及治疗的时机密切相关,尽早地治疗可挽回部分视力。
Objective: To analyze the clinical characteristics of endogenous endophthalmitis caused by Klebsiella pneumoniae in diabetic patients, and summarize the treatment experience and evaluate its prognosis. Methods: A retrospective case analysis was performed on 7 patients (8 eyes) with endogenous endophthalmitis caused by Klebsiella pneumoniae, who were admitted to the Affiliated Eye Hospital of Shandong University of Traditional Chinese Medicine from January 2019 to August 2022. The age, gender, origin of infection, time of treatment, visual acuity before and after treatment, intraocular pressure, slit lamp examination, fundus examination, ophthalmic B-mode ultrasound, treatment methods, infection control and recurrence were analyzed. Results: The mean age of the seven patients was (63±17.6). There were five males (71.4%) and 2 females (28.6%). Postoperative visual acuity was NLP in seven eyes (87.5%) and LogMAR visual acuity was 0.2 in one eye (12.5%). Visual acuity was related to the patient’s visit time and the visual acuity at visit. Six cases (85.7%) had fever before treatment. Fever was a risk factor for Klebsiella pneumoniae endophthalmitis infection. Eight eyes (100%) had mixed conjunctival congestion, and one eye (12.5%) had abscess in the anterior chamber. Seven eyes (87.5%) underwent vitrectomy combined with intravitreal drug injection, and one eye (12.5%) underwent intravitreal drug injection alone. Infections were controlled in all eight eyes without enucleation. Intraocular pressure was normal during the follow-up period, and there was no infection recurrence. Conclusions: Klebsiella pneumoniae is the main pathogen of endogenous endophthalmitis and is prone to occur in people with diabetes. The onset of the disease progresses rapidly. The early clinical manifestations are not typical, and the prognosis is closely related to the duration of the disease and the timing of treatment. Early treatment can restore some vision.

温州地区足月新生儿眼部筛查结果分析

Analysis of eye screening results for term neonates in Wenzhou area

:400-404
 
目的:足月新生儿行眼部筛查,对眼部疾病的发生情况与特征进行分析。方法:回顾性分析从2021年1月至2022年6月间就诊于温州医科大学附属第二医院&育英儿童医院的足月新生儿共4 594例,记录眼部筛查结果并分析。结果:新生儿眼部筛查总异常率约10.54%,眼底异常率约6.38%。眼前段常见病为新生儿泪囊炎、结膜炎、血管瘤、睑内翻、白内障等;眼底常见病为视网膜白色病灶、视网膜出血、家族性渗出性视网膜病变等。结论:广角婴幼儿眼底筛查仪可早期发现新生儿隐匿性的眼病,部分致盲性眼病需要早期给予治疗,今后需要建立和完善新生儿眼病筛查及随访机制。
Objective: To screen the eyes of term neonates and analyze the occurrence and characteristics of eye diseases. Methods: The eye screening results of 4 594 term neonates admitted to the Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical University from January 2021 to June 2022 were recorded and retrospectively analyzed. Results: The  total abnormal rate of neonatal eye screening was about 10.54%, among which the abnormal rate of fundus was about 6.38%. Common diseases of the anterior segment included neonatal dacryocystitis, conjunctivitis, hemangioma, entropion, cataract, et al. Common diseases of the posterior segment included retinal leukoplakia, retinal hemorrhage, familial exudative retinopathy, et al. Conclusions: The wide-angle infant fundus screening instrument could detect neonatal occult ophthalmopathy early. And some blinding ophthalmopathies might need early treatment. In the future, it is necessary to establish and improve the screeningand the follow-up mechanism system for the neonatal ophthalmopathy.

人工智能诊断系统在基层眼底视网膜疾病筛查领域的应用实践

Application practice of artificial intelligence diagnosis system in the field of primary fundus retinal disease screening

:405-413
 
目的:借助于人工智能(artificial intelligence,AI)眼底筛查远程接转诊系统,探索“患者-社区-医院”远程筛查模式,推进眼科分级诊疗和双向转诊实施,为地市级医疗机构开展眼底疾病人工智能筛查工作提供一定的经验借鉴。方法:通过AI辅助远程筛查基层医疗机构的4886例患者,完成眼科检查并经AI初判、人工复核形成眼底诊断结论。通过医联体和专科联盟模式,对基层医疗机构的4886例患者的AI诊断系统结果和上级医师审核结果进行对照分析,分析AI诊断系统在眼科常见病种筛查中的推广应用的可信度和可行性。结果:AI检出DR的灵敏度为94.70%,特异度96.06%;DME的灵敏度96.43%,特异度96.55%;AMD的灵敏度77.55%,特异度95.74%;同时,其在病理性近视、白内障、青光眼等常见病种眼底筛查中也有一定作用。结论:AI辅助远程筛查系统对于绝大多数眼底疾病有较高的敏感性和特异性,适用于眼底疾病的筛查工作,利于基层医院或社区医院对于眼底疾病的初步诊断,落实眼科分级诊疗,有借鉴推广意义。
Objective: With the help of artificial intelligence (AI) based fundus screening remote referral telemedicine system,it enables us to explore the remote screening mode of patient-community-hospital, and promote the two-way referral and ophthalmic graded diagnosis. This investigation provides certain practice experiences for prefecture-level medical institutions to carry out AI screening for fundus diseases. Methods: Ophthalmologic examination was performed on 4,886 patients in primary medical institutions through AI-aided remote screening, and the final fundus diagnosis conclusion was formed after AI preliminary judgment and manual review. Through the Medical Consortium and specialty alliance model, the results of the AI diagnosis system and the audit results of superior physicians for 4 886 patients in primary care institutions were compared and analyzed, and the credibility and feasibility of the AI diagnosis system application in the screening of common ophthalmic diseases were discussed. Results: The sensitivity and specificity of AI detection of diabetic retinopathy were 94.70% and 96.06%, respectively. In the diabetic macular edema classification, the sensitivity and specificity were 96.43% and 96.55%, respectively. In the age-related macular degeneration classification, the sensitivity and specificity were 77.55% and 95.74%, respectively. Meanwhile, it also plays a role in screening common fundus diseases such as pathological myopia, cataract and glaucoma. Conclusion: The AI-aided remote screening system has high sensitivity and specificity for most of fundus diseases, indicating it is promising for fundus diseases screening in primary medical institutions. It is conducive for primary hospitals or community hospitals to carry out the initial diagnosis of fundus diseases, as well as the implementation of graded diagnosis and treatment of ophthalmology, which has reference and promotion significance.

新发缺血性脑卒中患者的视网膜黄斑区OCT特征

OCT characteristics of retinal macular region in patients with new-onset ischemic stroke

:414-421
 
目的:测量黄斑区视网膜神经节细胞层和内界膜-视网膜色素上皮层厚度,分析其与新发缺血性脑卒中的相关性。方法:采用前瞻性研究,选择2021年12月至2022年3月在潍坊医学院附属医院体检的健康者30例(60眼)为对照组(A组);选择同期收治且年龄匹配的新发缺血性脑卒中患者30例(60眼)为卒中组(B组)。比较两组黄斑区神经节细胞层(ganglion cell layer,GCL)和内界膜-视网膜色素上皮层(inner limiting membrane-Retinal pigment epithelium,ILM-RPE)厚度及平均GCL厚度/ILM-RPE平均容积厚度(GCL/ILM-RPE厚度比)。结果:共纳入120只眼,A、B组分别60只眼。A组的平均GCL为(83.5±4.7)μm,B组的平均GCL厚度为(78.7±10.5)μm,组间比较差异有统计学意义(P<0.001)。A组的GCL最小厚度为(80.4±4.4)μm,B组的GCL最小厚度为(70.7±16.3)μm,组间比较差异有统计学意义(P<0.001)。A组的ILM-RPE中心子区厚度为(247.5±19.8)μm,B组的ILM-RPE中心子区厚度为(241.6±36.3)μm,组间比较差异无统计学意义(P=0.393)。A组的ILM-RPE平均容积厚度为278.4±9.8μm,B组的ILM-RPE平均容积厚度为(278.5±15.3)μm,组间比较差异无统计学意义(P=0.448)。A组的GCL/ILM-RPE厚度比为0.300 3±0.012 2,B组的GCL/ILM-RPE厚度比为0.286 2±0.028 6,组间比较差异有统计学意义(P<0.001)。结论:缺血性脑卒中影响GCL厚度和GCL/ILM-RPE厚度比, GCL厚度和GCL/ILM-RPE厚度比与新发缺血性脑卒中可能有关。
Objective: To measure the thickness of retinal ganglion cell layer and inner limiting membrane-retinal pigment epithelium layer in the macular region, and analyze its correlation with new-onset ischemic stroke. Methods: By using a prospective study, 30 healthy subjects (60 eyes) who underwent physical examination in Affiliated Hospital of Weifang Medical University from December 2021 to March 2022 were selected as the control group (Group A). Thirty age-matched patients with new-onset ischemic stroke admitted at the same time (60 eyes) were selected as the stroke group (Group B). The ganglioncelllayer (GCL) and innerlimitingmembrane-Retinalpigmentepithelium (ILM-RPE) were compared between the two groups. It included the thickness and mean GCL thickness/Mean Volume thickness of ILM-RPE (GCL/ILM-RPE thickness ratio). Results: A total of 120 eyes were included, with 60 eyes in group A and B. The average GCL thickness in group A was (83.5±4.7) μm, and the average GCL thickness in group B was (78.7±10.5) μm,and the difference between groups was statistically significant (P<0.001). The minimum thickness of GCL in group A was (80.4±4.4) μm, and the minimum thickness of GCL in group B was (70.7±16.3) μm, showing statistical significance(P<0.001). The thickness of the central subregion of ILM-RPE in group A was (247.5±19.8) μm, and the thickness of the central subregion of ILM-RPE in group B was (241.6±36.3) μm, and the difference was not statistically significant between two groups (P=0.393). The mean volumetric thickness of ILM-RPE in group A was (278.4±9.8) μm, and the mean volumetric thickness of ILM-RPE in group B was (278.5±15.3) μm, and the difference was not statistically significant (P=0.448). The GCL/ILM-RPE thickness ratio of group A was (0.300 3±0.012 2), and that of group B was (0.286 2±0.028 6), showing a statistical difference between groups (P<0.001). Conclusion: Ischemic stroke affects the GCL thickness and the thickness ratio of GCL/ILM-RPE, which may be related to new-onset ischemic stroke.
综述

系统性红斑狼疮与眼病

Systemic lupus erythematosus and eye diseases

:422-426
 
系统性红斑狼疮(systemic lupus erythematosus, SLE)是一类累及多种器官的结缔组织病,且SLE的发病机制十分复杂,常引起关节炎、脑病、肾病、皮肤损害,眼部病变亦是SLE常见疾病,且常引起视力障碍,甚至致盲、致残。该文通过整理文献,浅谈SLE相关眼病的类型、病因、眼部表现,以及SLE常用的中医辨证论治。
Systemic lupus erythematosus (SLE) is a class of connective tissue diseases that affect a variety of organs. Moreover, the pathogenesis of SLE is very complex, often causing arthritis, encephalopathy, kidney disease and skin damage, ocular lesions are also common diseases of SLE, and it can often cause visual impairment, and even blindness and disability. By collating the literature, this paper discusses the types, etiology, and ocular manifestations of SLE-related eye diseases, as well as the dialectical treatment of SLE commonly used in traditional Chinese medicine.

伴有听力异常的综合征型眼遗传病

Syndromic ophthalmogenetic diseasewith hearing impairment

:427-435
 
遗传在儿童和青少年的眼耳功能障碍发病机制中起着重要作用。由于眼耳有共同的神经内、外胚层起源,具有相似的基因网络,所以当共同的基因发生致病性变异时会导致眼耳双重感觉丧失。有超过70多种病因与聋盲有关,常见的伴有听力异常并累及视神经和视网膜的综合征型眼遗传病,包括CHARGE综合征、Usher综合征、Stickler综合征、Alport综合征、Wolfram综合征、Waardenburg综合征等。其他如染色体和胚胎的异常也会出现导致眼耳发育障碍,如Down综合征、Dandy-Walker综合征等。一些已知的眼遗传病致病基因变异也可导致听力异常,如OPA1基因。由于遗传异质性,眼耳综合征的临床诊断往往很困难,尤其是对婴幼儿。了解遗传综合征中眼耳相关临床特征,有利于早期发现和正确诊断;而当综合征中眼部表型不典型,可以通过耳部等其他系统表型协助诊断。同时,明确诊断对终生视觉和听觉功能的监测,以及与优生遗传咨询均有重要意义。
Heredity plays an important role in the pathogenesis of eye and ear dysfunction in children and adolescents. Because of common neural endodermal and ectodermal origins, the eyes and ears have the similar networks of genes Therefore, when pathogenic mutations occur in common genes, it can lead to loss of double sensation in the eyes and ears. There are more than 70 etiologies associated with the deafblindness, including CHARGE, Usher, Down, Stickler, Alport, Wolfram and Waardenbur syndromes, which are the most common syndromic ophthalmic genetic diseases with hearing and optic nerve/retinal abnormalities. Other abnormalities such as chromosomal and embryonic abnormalities can also lead to hearing and vision impairment, like Down and Dandy Walker syndromes. Some known genetic variants in ocular genetic diseases can also lead to hearing loss, such as OPA1 gene. Due to genetic heterogeneity, the clinical diagnosis of ocular and ear syndrome is often difficult, especially for infants and young children. With understanding the clinical features of eyes and ears in genetic syndrome,is conducive to early detection and accurate diagnosis, and when the ocular phenotype in the syndrome is atypical, it can be assisted by other systematic phenotypes such as the ear. At the same time, clear diagnosis is important for lifelong monitoring of visual and auditory function, as well as for eugenic genetic counseling.
病例报告

异基因造血干细胞移植后并发霜样树枝状视网膜血管炎一例

Frosted branch angiitis after allogeneic hematopoietic stem cell transplantation: a case report

:436-440
 
霜样树枝状视网膜血管炎是一种少见的急性视网膜血管炎,多发生于健康青少年,病因不明,可能与病毒感染有关,糖皮质激素治疗有效,预后良好;也可继发于感染性疾病和全身疾病,预后较差。该文回顾了一例继发于异基因造血干细胞移植后的霜样树枝状视网膜血管炎,治疗后病情缓解,预后良好。
Frosted branch angiitis (FBA) is a rare acute retinal vasculitis which often occurs in healthy adolescents. The etiology of FBA is unknown, but its occurrence may be related to viral infection, glucocorticoid therapy is effective and has a good prognosis. FBA may also be secondary to infectious and systemic diseaseswith poor prognosis. In this paper, we reviewed a case of FBA secondary to allogeneic hematopoietic stem cell transplantation, which was relieved after treatment and had a good prognosis.
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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