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Experience in managing patients with X-linked congenital retinoschisis 管理 X 连锁先天性视网膜裂孔症患者的经验
Pub Date : 2024-04-05 DOI: 10.17816/rpoj568547
Mihail A. Karyakin, Elena A. Stepanova, Sergey A. Korotkikh, Ivan Yu. Baksheev, Anastasia I. Bolshedvorova, S. I. Surtaev, Alexandra D. Shustova
AIM: To describe the clinical manifestations and management experience of patients with X-linked congenital retinoschisis (XLRS). MATERIAL AND METHODS: The study was conducted in the ophthalmology department of the multidisciplinary clinical medical center Bonum (Yekaterinburg). Two brothers with XLRS were under observation. They underwent complete ophthalmological examinations, including electrophysiological examinations, optical coherence tomography (OCT), and fundus photoregistration. The mother refused genetic testing. RESULTS: Both siblings had early (up to 1 year) manifestations of central foveolamellar and peripheral bullous retinoschisis. The parents are phenotypically healthy, and the relatives have no hereditary eye diseases. The younger brother had a progressive peripheral retinoschisis and underwent barrier laser retinopexy; as a result, the progression stopped at the last examination. Acetazolamide 125 mg given orally daily for 4 weeks did not have a noticeable effect on the volume of bullous cavities. The older brother had been under observation for 4 years, and spontaneous closure of retinal cavities on the periphery in one eye and retinal detachment in the other after surgical treatment of retinoschisis were observed. CONCLUSION: Clinical cases of long-term follow-up of two brothers with XLRS are described. OCT is indicated to diagnose, assess the length and the state of the vitreoretinal interface, and monitor XLRS. Electroretignography is a specific and sensitive method for the complex diagnosis of XLRS. Barrier laser retinopexy is indicated for progressive peripheral retinoschisis. The efficacy and safety of carbonic anhydrase inhibitors in patients with XLRS require further study.
目的:描述 X 连锁先天性视网膜裂孔症(XLRS)患者的临床表现和治疗经验。材料与方法:研究在叶卡捷琳堡市多学科临床医疗中心博努姆眼科进行。两兄弟患有 XLRS,正在接受观察。他们接受了全面的眼科检查,包括电生理检查、光学相干断层扫描(OCT)和眼底照相术。母亲拒绝接受基因检测。结果:两兄妹都有早期(1岁以内)中心眼窝和周边大泡性视网膜裂伤的表现。父母表型健康,亲属没有遗传性眼病。弟弟患有进行性外周性视网膜裂孔症,接受了屏障激光视网膜整形术,结果在最后一次检查时停止了进展。每天口服乙酰唑胺 125 毫克,连续服用 4 周后,对大泡的体积没有明显影响。哥哥已接受了 4 年的观察,在对视网膜裂孔症进行手术治疗后,一只眼睛周边的视网膜空洞自发闭合,另一只眼睛视网膜脱离。结论:本文描述了两兄弟 XLRS 长期随访的临床病例。OCT 适用于诊断、评估玻璃体视网膜界面的长度和状态以及监测 XLRS。电子视网膜造影是一种特异而敏感的方法,可用于 XLRS 的复杂诊断。屏障激光视网膜整形术适用于进行性周边视网膜裂孔。碳酸酐酶抑制剂对XLRS患者的疗效和安全性需要进一步研究。
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引用次数: 0
Chiasm gliomas in pediatric patients. Part 1. Сlinical manifestations 儿童患者的脊髓胶质瘤。第一部分:临床表现临床表现
Pub Date : 2024-04-05 DOI: 10.17816/rpoj624691
N. K. Serova, O. O. Alyaeva
Chiasm gliomas are very important heterogeneous group of tumors manifesting in the first and second decades of life and is the second leading cause of blindness in children with neurosurgical pathology. It is a benign, slow-growing piloid astrocytoma, accounting for 1–5% of intracranial gliomas in children. The incidence of neurofibromatosis type 1 among patients with chiasm glioma ranges from 7 to 60%. The location of the tumor is determined based on ophthalmological symptoms, neuroimaging data (MRI), and surgical findings. The initial growth of the tumor occurs in the anterior visual pathway structures (optic nerves, chiasm, optic tracts) and leads to ophthalmological symptoms, which are dominant in the clinical manifestations of the disease. Chiasm damage may occur in one or both optic nerves, in one or both optic tracts. Damage to the chiasm manifests as bitemporal heteronymous hemianopsia. Moreover, the spread of the tumor to the optic nerves is accompanied by decreased visual acuity. Damage to the optic tract is manifested by homonymous hemianopia and normal visual acuity. However, isolated damage to the optic tract is uncommon and usually occurs with chiasm and optic nerve lesions; hence, visual disturbances are more complex. Lesions in the optic nerve fibers in the chiasm and optic nerves/tracts lead to primary descending atrophy of the optic nerves. Papilledema with optic nerve atrophy indicates occlusive hydrocephalus. Delayed diagnosis of the disease affects treatment results.
横纹肌胶质瘤是一类非常重要的异质性肿瘤,多发于儿童出生后的第一和第二个十年,是导致儿童失明的第二大神经外科病理原因。它是一种良性、生长缓慢的柔性星形细胞瘤,占儿童颅内胶质瘤的 1-5%。神经纤维瘤病 1 型在脊髓胶质瘤患者中的发病率为 7%至 60%。肿瘤的位置是根据眼科症状、神经影像学数据(核磁共振成像)和手术结果确定的。肿瘤最初生长在前视觉通路结构(视神经、脊管、视束)中,导致眼科症状,这在疾病的临床表现中占主导地位。视交叉损害可能发生在一条或两条视神经上,也可能发生在一条或两条视束上。视交叉受损表现为位颞异名半身不遂。此外,肿瘤扩散到视神经时会伴有视力下降。视束受损表现为同侧偏盲和视力正常。然而,单独的视束损害并不常见,通常与视交叉和视神经病变同时发生,因此视力障碍更为复杂。视神经纤维在视交叉和视神经/视束中的病变会导致视神经原发性下降性萎缩。伴有视神经萎缩的视乳头水肿提示闭塞性脑积水。疾病诊断延迟会影响治疗效果。
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引用次数: 0
A typical case of miraculous relief from blindness 奇迹般地摆脱失明的典型案例
Pub Date : 2024-04-05 DOI: 10.17816/rpoj623884
O. V. Proskurina, Ludmila V. Kogoleva, Yu. A. Bobrovskaya
This article describes a case of hysterical amblyopia in a 10.5-year-old girl. She complained of decreased vision for 4 months. The decrease in vision was a result of infectious mononucleosis and conjunctivitis. During the initial examination, typical signs of hysterical amblyopia were observed: a bilateral decrease in visual acuity, loss of field to tubular, and a corresponding impaired orientation in the surrounding space. Reversible changes in visual evoked potentials (VEP) were noted, indicating functional changes in the visual system, impaired color perception. A complete ophthalmological examination was performed, including standard methods and electrophysiological studies. Upon repeated examination after 1 day, complete relief of signs of hysterical amblyopia was noted, namely, an increase in visual acuity to 1.2, expansion of the boundaries of the visual field to normal values, normal binocular and accommodation functions, and normal trichromasia. This case was unique because of the complete restoration of visual functions that occurred spontaneously within 1 day. For the first time, reversible changes in visual evoked potential that were not previously described in the literature were revealed, and an undifferentiated violation of color perception was described.
本文描述了一例 10.5 岁女孩的癔病性弱视。她主诉视力下降已有 4 个月。视力下降是传染性单核细胞增多症和结膜炎的结果。在初步检查中,发现了癔症性弱视的典型症状:双侧视力下降,视野丧失至管状,周围空间的定向力也相应受损。视觉诱发电位(VEP)出现了可逆性变化,表明视觉系统发生了功能性变化,色觉受损。对患者进行了全面的眼科检查,包括标准方法和电生理检查。1 天后再次检查时,发现癔病性弱视的症状完全缓解,即视力增加到 1.2,视野边界扩大到正常值,双眼和调节功能正常,三色正常。该病例的独特之处在于,患者的视觉功能在 1 天内自发地完全恢复。该病例首次发现了以前文献中没有描述过的视觉诱发电位的可逆变化,并描述了一种无差别的色觉障碍。
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引用次数: 0
Assessment of the toxic effect of the medical glue «Sulfacrylate» in M-22 cell culture 在 M-22 细胞培养中评估医用胶水 "硫丙烯酸酯 "的毒性作用
Pub Date : 2024-04-05 DOI: 10.17816/rpoj625566
Irina A. Filatova, Olesya V. Soldatkina, M. S. Makarov, N. V. Borovkova, M. Storozheva, I. N. Ponomarev
Sulfacrylate is a medical glue used in general and vascular surgery, traumatology, maxillofacial surgery, thoracic and abdominal surgery, and dentistry. To connect tissues in plastic ophthalmic surgery, the toxic properties of Sulfacrylate should be studied. AIM: To evaluate the toxic effect of Sulfacrylate in human cell culture in vitro. MATERIAL AND METHODS: In vitro studies were conducted on human fibroblast cultures of the M-22 line from the 20th passage. Sulfacrylate was used in the present study (registration certificate for a medical device no. FSR 2010/09805; December 31, 2010). A lyophilized bandage based on human type 1 collagen was used to fix the glue. The total number of cells at the bottom of wells, cell density at the bottom of wells and on collagen dressings (1 thousand cells per cm2), structural integrity of cells and their morphology, integrity of cell membranes were evaluated. RESULTS: The toxic effect of collagen dressings with Sulfacrylate was limited by the size of the bandage. Collagen dressings with Sulfacrylate did not affect the viability of cells not in direct contact with the dressings and did not cause a pronounced decrease in the proliferative activity of cells. The minimum optimal dosage of adhesive for plastic ophthalmic surgery was 1–3 µkl. CONCLUSION: The use of Sulfacrylate in plastic ophthalmic surgery is feasible; however, the volume used should be minimized.
硫丙烯酸酯是一种医用胶水,用于普通外科、血管外科、创伤科、颌面外科、胸腹部外科和牙科。为了在眼科整形手术中连接组织,应对磺丙烯酸酯的毒性进行研究。目的:评估 Sulfacrylate 在体外人体细胞培养中的毒性作用。材料和方法:对第 20 代 M-22 系人成纤维细胞进行体外研究。本研究使用了磺丙烯酸酯(医疗器械注册证号:FSR 2010/09805;12 月)。FSR2010/09805;2010 年 12 月 31 日)。固定胶水使用的是基于人 1 型胶原蛋白的冻干绷带。对孔底的细胞总数、孔底和胶原敷料上的细胞密度(每平方厘米 1 千个细胞)、细胞结构的完整性及其形态、细胞膜的完整性进行了评估。结果:含磺丙烯酸酯的胶原敷料的毒性作用受到绷带大小的限制。硫丙烯酸酯胶原敷料不会影响未与敷料直接接触的细胞的活力,也不会导致细胞增殖活性明显下降。眼科整形手术中粘合剂的最小最佳用量为 1-3 µkl。结论:在眼科整形手术中使用磺丙烯酸酯是可行的,但应尽量减少用量。
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引用次数: 0
Choroidal neovascularization in children: Etiology, diagnosis, and clinical manifestations 儿童脉络膜新生血管:病因、诊断和临床表现
Pub Date : 2024-04-05 DOI: 10.17816/rpoj625525
L. A. Katargina, E. Denisova, Natalya A. Osipova, Ya. A. Kiseleva
Few studies have analyzed choroidal neovascularization (CNV) in children because of the low incidence of this complication in pediatric ophthalmology. However, given the significant effect on visual acuity and diagnostic difficulties in children, the study of this complication is relevant. AIM: This study aimed to analyze the etiological structure and clinical features of CNV in children. MATERIAL AND METHODS: From 2014 to 2022, 61 eyes of 54 children (26 girls and 28 boys) had CNV. The patients underwent standard ophthalmologic examination and optical coherence tomography (OCT) and OCT angiography (OCTA) of the macular zone and optic disc using the RS-3000 Advance 2 Tomograph (Nidek, Japan). RESULTS: At the time of CNV diagnosis, the children were 5–17 years old, with a mean of 11±3 years. In 30 children (55.6%), CNV was caused by inflammatory lesions of the retina and choroid. Of these cases, 11 occurred during remission, whereas 21 occurred alongside pathologies of the retina, choroid, and optic nerve of noninflammatory genesis (8 of which were associated with Best’s disease). In three children, CNV was considered idiopathic. The development time of postinflammatory CNV ranged from 1 month to 12 years, with an average of 7.3±5 months from disease onset. Type 2 CNV was found in most cases (48 eyes, 78.7%). CONCLUSION: CNV is a rare complication of various ocular diseases in children. In our cohort, it was most frequently observed in children with inflammatory lesions of the retina and choroid, even during remission. Patients at risk of CNV must be actively monitored because it occurs in various forms.
由于小儿眼科中脉络膜新生血管(CNV)的发病率较低,因此很少有研究对儿童脉络膜新生血管(CNV)进行分析。然而,鉴于脉络膜新生血管对儿童视力的重大影响以及诊断上的困难,对这一并发症的研究具有现实意义。目的:本研究旨在分析儿童 CNV 的病因结构和临床特征。材料与方法:2014 年至 2022 年,54 名儿童(26 名女孩和 28 名男孩)的 61 只眼睛患有 CNV。患者接受了标准眼科检查,并使用RS-3000 Advance 2断层成像仪(日本Nidek公司)对黄斑区和视盘进行了光学相干断层成像(OCT)和OCT血管成像(OCTA)。结果:确诊 CNV 时,患儿年龄为 5-17 岁,平均年龄为 11±3 岁。30名儿童(55.6%)的CNV是由视网膜和脉络膜的炎性病变引起的。在这些病例中,11 例发生在病情缓解期,21 例与视网膜、脉络膜和视神经的非炎症性病变同时发生(其中 8 例与贝斯特氏病有关)。有 3 名儿童的 CNV 被认为是特发性的。炎症后 CNV 的发展时间从 1 个月到 12 年不等,平均为 7.3±5 个月。大多数病例(48 只眼睛,78.7%)发现了 2 型 CNV。结论:CNV是儿童各种眼科疾病的罕见并发症。在我们的队列中,视网膜和脉络膜有炎症病变的儿童最常出现 CNV,即使在病情缓解期间也是如此。由于 CNV 的形式多种多样,因此必须积极监测有 CNV 风险的患者。
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引用次数: 0
Current treatment options for dry eye syndrome in children 儿童干眼症的现有治疗方案
Pub Date : 2024-04-05 DOI: 10.17816/rpoj623620
L. A. Kovaleva, Tatjana V. Kuznetsova, A. A. Baisangurova, A. A. Zaitseva
AIM: To analyze personalized therapy for dry eye syndrome (DES) in children, depending on the etiopathogenesis and severity of the disease. MATERIAL AND METHODS: In total, 187 children aged 3–17 years with DES were treated. Ophthalmic medicines registered in Russia from the group of local rehydrants replacing tear fluid and stabilizing tear film were used, and a comparative analysis of their effectiveness was carried out. RESULTS: An individual approach was implemented, and personalized therapy focused on the individual tolerability and effectiveness of medicines was developed. The principle of DES therapy is to replenish the lacrimal fluid deficiency and stabilize all layers of the tear film, considering the etiopathogenesis and severity of clinical symptoms. At this stage, the lipid layer of the tear film was normalized with the help of hypotonic oil-based preparations that can stabilize the lipid layer. All rehydrants of low, medium, and high viscosities contributed to the restoration of the water layer of the joint venture. The deficiency of the mucin layer of the tear film was compensated by hyaluronic acid and carboxymethylcellulose, which are part of the preparations that replace the tear film. The severity of DES associated with the intensity of the clinical changes in the conjunctiva and cornea was considered when designing the DES treatment regimen in children. In cases of mild and extremely severe severity, tear-replacement medicines of low viscosity showed the greatest therapeutic effectiveness. High-viscosity preparations and gels have been proven to be effective in moderate to severe DES. During the desquamation of the conjunctival and corneal epithelium, medicines with regenerating pharmacological action related to tissue repair simulators were included in the treatment regimen. Reparants included in the combined composition of tear-replacement medicines or monopreparations were used. CONCLUSION: The effectiveness of the DES treatment algorithm in children with various nosologies and features of etiopathogenesis was analyzed considering disease severity. The proposed schemes of personalized tear-replacement and reparative therapy make it possible to prevent a chronic disease course and occurrence of complications and preserve or restore visual acuity.
目的:根据儿童干眼症(DES)的发病机制和严重程度,分析针对该病的个性化疗法。材料与方法:共有 187 名 3-17 岁的 DES 儿童接受了治疗。使用了在俄罗斯注册的眼科药物,包括补充泪液和稳定泪膜的局部补液药物,并对这些药物的疗效进行了比较分析。结果:采用了因人而异的方法,并根据个人对药物的耐受性和有效性制定了个性化疗法。DES 疗法的原则是根据病因和临床症状的严重程度,补充泪液不足,稳定泪膜各层。在这一阶段,借助可稳定泪膜脂质层的低渗油性制剂,使泪膜脂质层恢复正常。所有低、中、高粘度的补液剂都有助于恢复合资企业的水层。透明质酸和羧甲基纤维素可弥补泪膜粘蛋白层的不足,它们是替代泪膜的制剂的一部分。在设计儿童 DES 治疗方案时,考虑了与结膜和角膜临床变化强度相关的 DES 严重程度。在轻度和极其严重的情况下,低粘度的泪液补充药物显示出最大的治疗效果。高粘度制剂和凝胶已被证明对中度和重度 DES 有效。在结膜和角膜上皮脱落期间,治疗方案中加入了与组织修复模拟器有关的具有再生药理作用的药物。使用的修复剂包括泪液补充药物的组合成分或单一制剂。结论:考虑到疾病的严重程度,分析了DES治疗算法对具有不同病名和发病特征的儿童的有效性。所提出的个性化泪液补充和修复治疗方案可以预防慢性病程和并发症的发生,并保持或恢复视力。
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Russian Pediatric Ophthalmology
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