视神经脊髓炎谱系疾病相关视神经炎是一种累及视神经的脱髓鞘性炎症疾病，视力损伤严重，预后差，复发率高。及时控制急性发作和有效预防复发是治疗的关键。目前治疗主要包括糖皮质激素、血浆置换、免疫吸附、免疫抑制剂、靶向单抗类药物。特别是近年来依库丽单抗、萨特利珠单抗、及依那利珠单抗取得重大进展。该文综述视神经脊髓炎谱系疾病相关视神经炎近年治疗研究进展，期望为临床决策提供有益参考。

Neuromyelitis optica spectrum disorders (NMOSD) is a central nervous system inflammatory demyelinating disease with involvement of the optic nerve and spinal cord, with poor prognosis and high recurrence rate. Timely control of acute attacks and effective prevention of recurrence are the keys to treatment. This article reviews the recent research progress in the treatment of optic neuritis associated with NMOSD , hoping to provide useful references for clinical decision-making.

患者，男性，1岁9个月。以“发现右眼上、下眼睑肿物25 d”首诊于眼科，要求切除，但经影像学及病理学检查，诊断为多发性朗格汉斯细胞组织细胞增生症，且全身骨骼多处出现溶骨性改变，不符合切除指征。给予多次全身化学治疗后眼部肿物明显变小。该例诊治提醒眼科医生，眼部肿物可由全身系统性疾病引起，不可盲目切除，必要时做进一步检查。术中切除物均建议行病理活组织检查，以免延误治疗。

patient, male, 1year and 9months old, was first diagnosed as “eye tumor” in the ophthalmology department and requested for excision. But it was diagnosed as multiple Langerhans cell histiocytosis (LCH) through imaging and pathological examination ultimately.Bone lytic changes appeared in many parts of the whole body, which did not meet the indication of excision.The tumor was smaller after systemic chemotherapy. The diagnosis and treatment of this case suggests ophthalmologists that eye tumors can be caused by caused by systemic diseases, systemic diseases. During operation, it is recommended to perform pathological biopsy to avoid treatment delay.

Dominant optic atrophy (DOA) is an inherited optic neuropathy and more than 75% of DOA patients harbor pathogenic mutations in OPA1. We reported a 39-year-old female harboring c.2119G>T mutation of OPA1 and manifested progressive visual impairment after hydroxychloroquine (HCQ) therapy. The patient’s visual impairment remained stable for 10 years until she began to take HCQ 13 months ago. She complained about progressively decreased vision in both eyes. Bilateral pale temporal optic disc was similar with that of 11 years ago. Optical coherence tomography showed bilateral moderate retinal nerve fiber layer thinning other than the nasal quadrant and general thinning of the inner retina in the macular. Microcystic macular edema was noted in nasal macular in both eyes. Visual field testing showed paracentral scotoma and microperimetry showed decrease sensitivity in the macular in both eyes. After the patient stopped taking HCQ, her functional tests including visual acuity, field testing and microperimetry testing was stable compared with those of 2 years ago. However, progressive inner macular and RNFL thinning was shown by OCT. OPA1 c.2119 G>T found in this patient was a mutation that had been rarely reported in previous studies. The patient has been followed up for over 10 years and her visual acuity stayed stable for decades long until she took HCQ for 13 months. Her vision decline terminated after she stopped taking HCQ. Although HCQ toxicity is highly related to the duration and daily dose, HCQ may aggravate visual impairment in certain individuals harboring OPA1 mutation. Patients with DOA should avoid using neurotoxic HCQ and other medications that may interfere mitochondrial metabolism.

Dominant optic atrophy (DOA) is an inherited optic neuropathy and more than 75% of DOA patients harbor pathogenic mutations in OPA1. We reported a 39-year-old female harboring c.2119G>T mutation of OPA1 and manifested progressive visual impairment after hydroxychloroquine (HCQ) therapy. The patient’s visual impairment remained stable for 10 years until she began to take HCQ 13 months ago. She complained about progressively decreased vision in both eyes. Bilateral pale temporal optic disc was similar with that of 11 years ago. Optical coherence tomography showed bilateral moderate retinal nerve fiber layer thinning other than the nasal quadrant and general thinning of the inner retina in the macular. Microcystic macular edema was noted in nasal macular in both eyes. Visual field testing showed paracentral scotoma and microperimetry showed decrease sensitivity in the macular in both eyes. After the patient stopped taking HCQ, her functional tests including visual acuity, field testing and microperimetry testing was stable compared with those of 2 years ago. However, progressive inner macular and RNFL thinning was shown by OCT. OPA1 c.2119 G>T found in this patient was a mutation that had been rarely reported in previous studies. The patient has been followed up for over 10 years and her visual acuity stayed stable for decades long until she took HCQ for 13 months. Her vision decline terminated after she stopped taking HCQ. Although HCQ toxicity is highly related to the duration and daily dose, HCQ may aggravate visual impairment in certain individuals harboring OPA1 mutation. Patients with DOA should avoid using neurotoxic HCQ and other medications that may interfere mitochondrial metabolism.

目的：运用孟德尔随机化(Mendelian randomization,MR)方法，探索户外活动与近视之间的双向因果关系。方法：来自英国生物银行(UK Biobank)的大型队列研究数据，选择与欧洲血统人群中户外活动与近视相关的相互独立的遗传位点作为IV。户外活动的全基因组关联研究(genome-wide association study, GWAS)数据包含419 314名欧洲人群，而近视的GWAS数据则包含460 536名欧洲人群，其中37 362名近视者和423 174名对照者。通过运用逆方差加权法(inverse variance weighted,IVW)、加权中位数法(weighted median,WM)以及MR Egger法进行MR分析，将比值比作为效应度量指标，深入探讨两者间的双向因果联系。同时，通过MR多态性残差和异常值检测(MR PRESSO)方法剔除SNP异常值，利用MR Egger法以及IVW法的Cochran Q检验对各个单核苷酸多态性(SNP)之间的异质性进行了评估；并且使用MR Egger截距检验SNP的潜在多效性，通过“留一法”敏感性分析检验MR研究是否受单个SNP的影响。结果：IVW分析显示户外活动能显著降低近视的风险(OR = 0.934, 95% CI: 0.922～0.948, P < 0.01)。反向孟德尔随机化分析发现近视者参与户外活动的意愿较低(OR = 0.925, 95%CI: 0.777～1.103)但P = 0.39，未达到统计学意义。双向孟德尔随机化分析的Cochran Q检验、MR PRESSO检测以及MR Egger截距测试结果均显示所选IV间不存在显著异质性和水平多效性问题，而且，“留一法”敏感性分析证实，单个SNP对整体结果未见影响。结论：户外活动可能明显降低近视的风险。

Objective: To employ Mendelian randomization (MR) methods to explore bidirectional causal relationships between outdoor activities and myopia. Methods: Large-scale cohort study data from the UK Biobank were utilized, selecting independent genetic loci associated with outdoor activities and myopia within the European ancestry population as instrumental variables. The outdoor activities GWAS data included 419,314 individuals of European descent, while the myopia GWAS data comprised 460,536 individuals, including 37,362 myopia cases and 423,174 controls. MR analyses were conducted using inverse variance-weighted (IVW), weighted median, and MR Egger methods, employing the odds ratio as the effect measure to thoroughly investigate bidirectional causal connections. Mendelian randomization pleiotropy residual sum and outlier (MR PRESSO) detection method were employed to eliminate SNP outliers. Cochran's Q test, within MR Egger and IVW methods, was utilized to assess heterogeneity among individual single nucleotide polymorphisms (SNPs). MR Egger intercept testing assessed potential pleiotropy, and sensitivity analysis using the "leave-one-out" method examined the influence of individual SNPs on overall results. Results: IVW analysis demonstrated that outdoor activities significantly reduce the risk of myopia (OR = 0.934, 95% CI: 0.922~0.948, P < 0.01). Reverse Mendelian randomization analysis revealed a non-significant lower propensity for myopic individuals to engage in outdoor activities (OR = 0.925, 95% CI: 0.777~1.103, P = 0.39). Cochran's Q test, MR PRESSO, and MR Egger intercept tests in bidirectional Mendelian randomization analysis all indicated no significant heterogeneity or horizontal pleiotropy issues among the selected instrumental variables. Furthermore, sensitivity analysis using the "leave-one-out" method confirmed that individual SNPs did not significantly impact the overall results. Conclusion: Outdoor activities significantly reduce the risk of myopia.

目的：观察视网膜激光光凝术(laser photocoagulation，LP)及玻璃体腔注射雷珠单抗(intravitreal ranibizumab，IVR)对病变位于II区的阈值前病变1型早产儿视网膜病变(retinopathy of prematurity，ROP)的疗效。方法：收集2015年10月至2019年12月厦门市儿童医院收治的病变位于II区的阈值前病变1型44例(81眼)。根据手术方式分为LP组、IVR组。观察各组术后病变消退、视网膜血管化情况、全身及眼部并发症，分析不同手术方式的效果。结果：LP组20例(37只眼)行视网膜激光光凝治疗，术后未出现复发，首次治愈率100%；术后(3.42±1.57)周病情控制，术后(9.84±4.75)周可观察到周边视网膜血管化。IVR组24例(44只眼)注射雷珠单抗，39只眼行单次手术后病情控制，首次治愈率88.6%，5眼术后病情未控制。术后(2.95±2.58)周病情控制，术后(14.19±4.95)周可观察到周边视网膜血管化。两组手术方式首次治愈率、视网膜血管化时间差异有统计学意义(P<0.05)。结论：视网膜LP及IVR治疗病变位于II区的阈值前病变1型均有较好疗效，IVR复发率较高，手术方式的选择需慎重。

Objective: To observe the efficacy of laser photocoagulation (LP) and intravitreal ranibizumab (IVR) injection in the treatment of type 1 prethreshold retinopathy of prematurity (ROP) with lesions located in zone II. Methods:Forty-four patients (81 eyes) with type 1 prethreshold retinopathy of prematurity with lesions located in zone II staying in our hospital from October 2015 to December 2019 were collected and divided into LP group and IVR group according to the operation method. Through observation of the postoperative disease involution, retinal vascularization, systemic and ocular complications in each group, the effects of different surgical methods were analyzed. Results: In LP group, 20 patients (37 eyes) underwent retinal laser photocoagulation treatment, with no recurrence occurred after the operation; the cure rate after the first operation was 100%; the disease was controlled at (3.42±1.57) weeks after the operation; and peripheral retinal vascularization was observed at (9.84±4.75) weeks after the operation. In IVR group, 24 patients (44 eyes) were injected with ranibizumab; 39 eyes were under control after a single operation; the cure rate after the first operation was 88.6%; and 5 eyes were not under control after surgery. The disease was controlled for an average of (2.95±2.58) weeks after operation; peripheral retinal vascularization was observed at (14.19±4.95) weeks after operation; there were statistically significant differences in the cure rate after the first operation and retinal vascularization time between the two groups. Conclusion:Retinal laser photocoagulation and IVR have good effects in the treatment of type 1 prethreshold retinopathy of prematurity with lesions located in zone II. However, the recurrence rate using IVR is relatively high. Therefore,the surgical method needs to be cautious and still requires clinical observation.

目的：研究早产儿视网膜病变患儿经不同治疗措施后屈光状态的改变。方法：将72例(127眼)早产儿视网膜病变患儿按治疗方式分为3组：激光光凝组、注药(抗血管内皮生长因子药物)组和自然消退组。并于治疗前，治疗后1、4、7、12个月对其进行睫状肌麻痹检影验光，对比分析3组的球镜和等效球镜的差异。结果：在治疗后1、4、7及12个月，三组患儿的球镜度和等效球镜度的差异有统计学意义(P<0.05)：注药组的球镜和等效球镜小于自然退化组及激光组(均P0.05)。治疗后12个月时激光光凝组、注药组和自然消退组近视发生率分别是2.4%、7.8%和2.0%，差异无统计学意义(P=0.356)。结论：经不同治疗措施的ROP患儿近视发生率无明显差异，但经玻璃体腔注射抗VEGF药物的ROP患儿正视化进程更快。

Objective: To observe the changes of refractive statues in infants with retinopathy of prematurity retinopathyof prematurity (ROP) after different treatments. Methods: According to different treatment methods, 72 cases(127 eyes) of infants with ROP were divided into 3 groups: laser photocoagulation group, intravitreal injectionof anti-vascular endothelial growth factor (VEGF) drugs group and natural regression group. Their sphere andspherical equivalent were measured by retinoscopy optometrist after the ciliary muscles paralyzed. The data beforetreatments and 1, 4, 7 and 12 months after treatments were recorded and analyzed. Results: The differences ofsphere and spherical equivalent among three groups were statistically significant: intravitreal injection of VEGFdrugs group was lower than natural regression group and the laser photocoagulation group, but there was no significant difference between natural regression group and laser photocoagulation group. Incidence of myopiaof laser photocoagulation, intravitreal injection of VEGF drugs, natural regression group were 2.4%, 7.8%, 2.0%,which was not statistically significant. Conclusion: There was no significant difference about the incidence rate ofmyopia among the three groups, but the emmetropization in infants with ROP after intravitreal injection of anti-VEGF drugs might be faster in the future.

目的： 探讨儿童双目视力筛查仪在先天性白内障中的应用。 方法： 本文为回顾性分析，选择 2017 年 7 月 至 2018 年 5 月在厦门市儿童医院眼科的 3 个月至 2 岁婴幼儿 336 例(672眼)，均由2个固定的医生分别采用小瞳孔红光反射及儿童双目视力筛查仪检查，同时详细记录病史资料。所有患儿均给予裂隙灯检查、复方托品卡胺散瞳后行眼底检查，对眼底无法窥入的者必要时给予眼部B超检查或眼部MRI检查，以排除眼底病变。结果：依据2009年出版的第5版《Harley’s小儿眼科学》的先天性白内障临床分类方法，本组病例中先天性白内障的类型依次为皮质(核)白内障2 7例(35眼)，其中胚胎核2例( 4眼)，板层2 3例(29眼)，核性2例( 2眼)；囊膜性白内障1 9例(28眼)，缝合性白内障2例( 4眼)，极性白内障3例( 6眼)，全白内障2例( 3眼)。儿童双目视力筛查仪筛查出先天性白内障的灵敏度为81.58%，特异度为79.87%，诊断符合率为80.06%；红光反射筛查的先天性白内障的灵敏度为51.32%，特异度为69.97%，诊断符合率为67.86%；两组结果比较均有统计学意义。儿童双目视力筛查仪对皮质(核)性白内障筛查率为97.14%，而红光反射的筛查率为37.14%，结果比较具有统计学意义。结论：儿童双目视力筛查仪在先天性白内障筛查中，具有低漏诊率和误诊率，较高的诊断一致性的优势，尤其对皮质(核)性白内障有高的检出率，将有利于在日常儿童眼保健的辅助筛查工作中，及早发现先天性白内障患儿。

Objective: To explore the application of children’s binocular vision screening instrument in screening congenital cataract. Methods: This was a retrospective analysis of 336 infants aged 3 months to 2 years (672 eyes) who were admitted to the Ophthalmology Department of Xiamen Children's Hospital from July 2017 to May 2018. They were examined by two fixed doctors with the pupil red light reflex and binocular vision screening instrument, and the medical history was recorded in details. All the children received slit lamp examination, compound tropicamide mydriasis and fundus examination. If necessary, the children who could not see fundus were given with B-ultrasonic examination or MRI examination. Results: According to the clinical classification of congenital cataracts published in the 5th edition of Harley’s pediatric ophthalmology in 2009, In this group, there were 27 cases (35 eyes) of congenital cataract, including 2 cases (4 eyes) of embryonic nucleus, 23 cases (29 eyes) of lamellar layer, 2 cases (2 eyes) of nuclear cataract, 19 cases (28 eyes) of capsular cataract, 2 cases (4 eyes) of suture cataract, 3 cases (6 eyes) of polar cataract and 2 cases (3 eyes) of total cataract. The sensitivity of children’s binocular vision screening instrument screening congenital cataract was 81.58%, the specificity was 79.87%, and the diagnostic coincidence rate was 80.06%; the sensitivity of red reflection screening congenital cataract was 51.32%, the specificity was 69.97%, and the diagnostic coincidence rate was 67.86%; the results of the two groups were statistically significant. The screening rate of children's binocular vision screening instrument for cortical (nuclear) cataract was 97.14%, while that of red reflex was 37.14%. The results were statistically significant. Conclusion: In the screening of congenital cataract, the binocular vision screening instrument for children has the advantages of low missed diagnosis rate, high misdiagnosis rate and high diagnostic consistency, especially for cortical (nuclear) cataract. It is helpful to find the congenital cataract early in the auxiliary screening of children’cares eye health