综述

CRISPR基因编辑技术及其在眼科疾病中的应用进展

Progress in the development of CRISPR genome editing technology and its application in ophthalmic disease

:537-542
 
CRISPR(clustered regularly interspaced short palindromic repeats)基因编辑技术通过精准改变细胞DNA序列,控制细胞命运及表型,是有望从根本上改变疾病治疗的新技术。由于眼球独特的生理构造,基因编辑疗法在治疗眼科疾病方面的应用具有明显的优势。目前,CRISPR基因编辑疗法治疗10型Leber先天性黑矇(Leber congenital amaurosis 10,LCA10)的临床试验已经展开,治疗其他多种眼科疾病的临床试验也即将开始。随着新一代CRISPR基因编辑技术的发展,基因编辑疗法有望为眼科疾病的治疗提供新的手段。
Clustered regularly interspaced short palindromic repeats (CRISPR) genome editing is a newly developed technology to precisely modify cellular DNA sequence, which could control cell fate and phenotype and fundamentally reform disease treatment. The structure of the eye offers unique advantages as a genome editing target. Recently, a CRISPR genome editing therapy has begun to be tested in Leber congenital amaurosis 10 (LCA10) patients, and the clinical trials for more ocular diseases are about to start. The development of CRISPR/Cas genome editing tools will drive major advances in the application of gene therapies in the treatment of ophthalmic disease.
论著

2014—2019年北京同仁医院儿童青光眼住院患者的疾病构成特点

Analysis of disease constitution of pediatric glaucoma inpatients in Beijing Tongren Hospital from 2014 to 2019

:473-477
 
目的:了解儿童罹患青光眼的疾病类型、特点,更好地做到早期发现早期治疗。方法:收集北京同仁医院2014—2019年度834例0~18周岁住院接受抗青光眼手术的患者,回顾性分析患者的人群特点与疾病构成特点。结果:834例患者中,原发青光眼397例(47.6%),继发青光眼429例(51.4%)。另有8例无法明确诊断青光眼类型。原发青光眼中以原发先天性青光眼最常见,继发青光眼中以白内障术后继发青光眼为主,两种类型的青光眼占总患者数的50%。结论:儿童罹患青光眼的疾病种类繁多,其中原发先天青光眼与白内障术后继发青光眼最常见,重视婴幼儿先天青光眼的筛查,监测儿童白内障术后眼压有助于早期发现青光眼,并给予治疗,延缓儿童青光眼患者视功能的损害。
Objective: To understand the types and characteristics of glaucoma in pediatric inpatients to achieve early detection and treatment. Methods: A total of 834 patients aged 0–18 years who underwent anti-glaucoma surgery in Beijing Tongren Hospital from 2014 to 2019 were collected and their population characteristics and disease composition characteristics were retrospectively analyzed. Results: In all of the 834 cases, there were 397 patients (47.6%) with primary glaucoma and 429 (51.4%) with secondary glaucoma. The type of glaucoma could not be definitively diagnosed in 8 cases. Primary infant glaucoma and secondary glaucoma following cataract surgery accounted for above 50%. Conclusion: The causes of pediatric inpatients with glaucoma are various. Screening of primary infant glaucoma should be taken seriously and monitoring intraocular pressure after cataract surgery is also important. Early detection and treatment can prevent further visual loss of pediatric patients with glaucoma.
综述

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.
论著

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.
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.
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.
专家述评

改变青光眼作为首位不可逆致盲性眼病的现状

Current status on the change of glaucoma as the first irreversible blinding disease

:389-392
 
青光眼不仅常见,而且严重损伤患者的视功能,被认定为全球首位不可逆致盲性眼病。仔细观察发现诊断不及时、治疗不合理、随诊不规律是导致青光眼患者致盲的常见原因。机会性筛查是临床早期发现青光眼患者的主要手段。为了提高筛查的效率,筛查时应当密切关注青光眼的高危人群,包括原发性青光眼患者的直系亲属、老年人群和高度近视患者。此外,要对发生青光眼全过程加深了解,无论是原发性闭角型青光眼,还是原发性开角型青光眼,其病情的进展都存在一个连续体概念。应当在青光眼患者出现症状或严重视功能损伤之前加以诊断。合理治疗应当包括应用适当的药物、激光或手术治疗,将每只患眼的眼压控制到与该眼的视盘和视野改变相适应的目标眼压范围内,尽量提高患者用药的依从性。对青光眼的持续性防治取决于是否有能力评估治疗效果以及发现病情的不稳定性状态,并加以恰当的处理。青光眼是可防可治的眼病。通过加强青光眼的早期诊断、合理治疗和长期随诊,可降低青光眼的致盲率,从而改变青光眼是首位致盲性眼病的现状。
Glaucoma not only is common, but also seriously damages the visual function of the patients, and is recognized as the first irreversible blinding disease in the world. After careful observation, we recognize that untimely diagnosis,unreasonable treatment and irregular follow-up are leading causes to blindness. Opportunistic screening is a main measure to early find the glaucoma in clinical practice. To improve the screening efficiency, the high-risk mass of glaucoma, such as immediate family members of glaucoma patients, older adults and high myopia should be closely focused. In addition, the ophthalmologists should understand the whole process of glaucoma. The development of the primary angle closure glaucoma or primary open angle glaucoma is a concept of continuum. We should make the diagnosis of glaucoma before the patients have any symptoms or serious damage of the visual function. Reasonable treatment should include controlling intraocular pressure in the scope of the target pressure adopting to the optic damage and visual field defect in that eye by drugs, laser or surgery, and as far as possible to improve the drug compliance. Sustained control of glaucoma management depends on the ability to assess the effect of treatment, and to find the instability of the disease and the appropriate management. Glaucoma is a preventable and treatable eye disease. We can decrease the blinding rate and change the current status of the first blinding eye disease for glaucoma.
论著

不同类型黄斑裂孔患病的相关因素

Related factors of various types of macular hole diseases

:333-336
 
目的:观察并分析不同类型黄斑裂孔的患病相关影响因素。方法:回顾性分析2012年1月 至2018年12月在兰州大学第二医院住院治疗的1 150例(1 202只眼)全层黄斑裂孔患者的年龄、性别、民族、最佳矫正视力、黄斑裂孔类型以及是否继发孔源性视网膜脱离等临床资料。结果:黄斑裂孔患病人数随年龄增长呈趋势性分布,60~69岁年龄段患病人数最多;男女患病差异有统计学意义(P<0.05),眼别差异无统计学意义(P>0.05);特发性黄斑裂孔继发孔源性视网膜脱离的占比明显低于其他类型;特发性黄斑裂孔的入院最佳矫正视力较高,与高度近视黄斑裂孔相比,差异有统计学意义(P<0.05)。结论:黄斑裂孔多发于老年人,女性多见,高度近视黄斑裂孔容易继发孔源性视网膜脱离,可考虑尽早安排手术治疗;外伤性黄斑裂孔好发于中青年男性,常见于眼球钝挫伤,若未引发视网膜脱离等并发症,应适当观察而不急于手术。每1例黄斑裂孔都可能有其特殊性,需要认真分析病情综合判断,酌情选择观察或手术。
Objective: To observe and analyze the disease related factors of different types of macular hole. Methods: Clinical data including age, sex, ethnicity, best corrected visual acuity, macular hole type and whether accompanied by rhegmatogenous retinal detachment were retrospectively analyzed in 1 150 patients (1 202 eyes) hospitalized in our hospital from January 2012 to December 2018. Results: The number of patients with macular hole increased with age. There was statistically significant difference between male and female patients (P<0.05), and no statistically significant difference between eyes (P>0.05). The rate of rhegmatogenous retinal detachment caused by idiopathic macular hole was significantly lower than other types. The optimal corrected visual acuity of idiopathic macular hole was higher in admission, which was statistically different from that of high myopia macular hole and ametropia macular hole (P<0.05). Conclusion: Macular hole is more common in the elderly and more common in women. High myopia and ametropia macular hole are easily associated with rhegmatogenous retinal detachment, so surgical treatment should be arranged as soon as possible. Traumatic macular hole often occurs in young and middle-aged men and is often seen in blunt contusion of the eyeball. Each case of macular hole may have its particularity, which requires careful analysis of the condition, comprehensive analysis, and appropriate choice of observation or surgery.
综述

间充质干细胞在眼表疾病治疗中的应用

Application of mesenchymal stem cells in the treatment of ocular diseases

:299-305
 
间充质干细胞由于其独特的自我更新和多向分化能力,成为了一种替代无效的常规治疗的新兴治疗方法。间充质干细胞通过免疫调节、促修复、抗新生血管机制和细胞替代作用在眼表疾病中发挥作用,而不同来源的间充质干细胞其作用机制也不完全相同。迄今为止,已有8项注册的间充质干细胞治疗的临床试验应用于干眼、角膜烧伤、圆锥角膜等眼表疾病。
Due to its unique self-renewal and multi-directional differentiation capabilities, mesenchymal stem cells (MSCs) have become an emerging therapy that replaces of ineffective conventional options in treating multiple diseases. It plays an important role in ocular surface illnesses through a variety of functions, including immunoregulation, promoting repairing, anti-angiogenesis mechanisms, and cell replacement. MSCs from different sources have different mechanisms.So far, 8 registered clinical trials of MSCs therapy have been applied to treat dry eye, ocular burn, keratoconus and other ocular surface diseases.
论著

大气污染物NO2与干眼的临床相关性

Correlation between air pollutant NO2 and dry eye disease

:264-270
 
目的:探讨大气污染物NO<sub>2</sub>水平与干眼患病的相关性。方法:选取2014年1月至2018年1月共计75 279例干眼患者的临床资料,进行资料汇总。空气质量和天气数据来自西安市气象局2014—2018年的每日环境空气质量数据。分析中包括的环境空气污染物NO<sub>2</sub>。所有数据均按小时收集。计算每个变量的每日平均值,并计算本研究中使用的每周平均值。本研究中患者均自愿参加,并经南昌大学第一附属医院医学研究伦理委员会批准。结果:干眼的门诊就诊次数与NO<sub>2</sub>水平显著相关。本研究发现不同年龄段的人受到不同的参数变化影响,环境中NO<sub>2</sub>的浓度对于全年龄段的人患干眼有显著相关性,对性别无选择性,男女均会因为NO2在环境中的不同水平而患干眼。较高水平的环境NO<sub>2</sub>会增加门诊患者干眼的概率。我们通过对患者人数的累计与环境中NO<sub>2</sub>浓度进行相关性分析,发现其有显著相关性,因此环境空气污染和天气变化可能导致干眼的恶化。结论:大气污染物NO2与干眼患病有显著相关性。
Objective: To investigate the correlation between NO2 levels in air pollutants and dry eye. Methods: The clinical data of 75 279 patients with dry eye from January 2014 to January 2018 were selected and summarized. The air quality and weather data were from the daily ambient air quality data of Xi’an Meteorological Bureau from 2014 to 2018. Environmental air pollutants NO2 was included in the analysis. All data were collected on an hourly basis. We calculated the daily average for each variable and then calculated the weekly average used in this study.All patients in this study volunteered to participate. , and this study was approved by the Medical Research Ethics Committee of the First Affiliated Hospital of Nanchang University. Results: We found that the number of outpatient visits for dry eye was significantly correlated with NO2 levels. Our study found that people of different ages were affected by different parameter changes. The concentration of NO2 in the environment was significantly correlated with dry eyes in all age groups, and is not selective for gender. Both men and women could develop dry eyes due to different levels of NO2 in the environment. Our results showed that higher levels of environmental NO2 increased the chances of dry eyes in outpatients. By analyzing the correlation between the cumulative number of patients and the NO2 concentration in the environment, we found that the correlation was significant.Therefore, ambient air pollution and weather changes may lead to the deterioration of dry eye. Conclusion: There is a significant correlation between atmospheric pollutant NO2 and dry eye disease.
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
    浏览
  • 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
    浏览
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