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Herpes Simplex Virus Infection of the Anterior Segment of the Eye and its Clinical Presentation. A Review. 眼前段单纯疱疹病毒感染及其临床表现。复习一下。
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.31348/2025/30
Michal Biensky, Petra Bačová, Vladimír Kováč, Michaela Leštachová, Ladislav Jančo

Herpetic infections frequently cause diagnostic errors, which subsequently lead to mistakes in therapy. They affect all the ocular structures, although in everyday practice we most frequently encounter herpetic infections of the anterior segment of the eye. This review article focuses on infections of the anterior segment of the eye caused by the herpes simplex virus. It explains in further detail the specific pathophysiology and course of herpetic infection, which is closely related to the clinical manifestations of the disease. The various stages of primary and secondary infection are described in detail and documented with photographs from the 2nd Eye Clinic of the Slovak Medical University at F.D. Roosevelt Hospital in Banská Bystrica. The last two sections focus on the diagnosis and treatment of herpes simplex virus infections. Correct identification of the form of herpetic disease is crucial for proper therapeutic management.

疱疹感染经常导致诊断错误,从而导致治疗错误。它们影响所有的眼部结构,尽管在日常实践中,我们最经常遇到眼睛前段的疱疹性感染。这篇综述文章的重点是由单纯疱疹病毒引起的眼睛前段感染。它进一步详细地解释了疱疹感染的具体病理生理和病程,这与疾病的临床表现密切相关。详细描述了原发性和继发性感染的各个阶段,并记录了斯洛伐克医科大学在班斯克比斯特里察F.D.罗斯福医院第二眼科诊所的照片。最后两节重点介绍单纯疱疹病毒感染的诊断和治疗。正确识别疱疹疾病的形式对于适当的治疗管理至关重要。
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引用次数: 0
Subjective Changes in Vision of Patients with Diabetic Macular Edema Treated with Ranibizumab. 雷尼单抗治疗糖尿病性黄斑水肿患者的主观视力变化。
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.31348/2025/43
Anna Tarková, Kristína Ivkovičová, Zuzana Urbanová, Libor Hejsek, Jan Studnička

Aim: To evaluate changes in the subjective perception of visual acuity in everyday life during intravitreal ranibizumab treatment in patients with diabetic macular edema using the Slovak version of the international NEI VFQ-25 questionnaire.

Material and methods: In a prospective study, 48 eyes of 30 treatment-naive patients were evaluated, and met the indication criteria. We determined best-corrected visual acuity in letter score (LS), intraocular pressure (IOP), central retinal thickness (CRT) and total macular volume (TMV). Patients received the NEI VFQ-25 questionnaire before the first and then after three, six and twelve months of treatment.

Results: Before treatment, LS averaged 68.1 letters, IOP 17.6 mmHg, CRT 480.5 μm, and TMV 11.2 mm3. After twelve months of intravitreal treatment, LS averaged 72.6 letters, IOP 17.0 mmHg, CRT 332.4 μm, and TMV 9.3 mm3. Comparison of data relating to subjective perception of vision before and after twelve months of treatment: perception of general health improved by 7%, vision in general improved by 15%, eye pain decreased by 8%, near vision improved by 12%, distance activities improved by 5%, social functioning improved by 4%, mental health improved by 6%, difficulties with functioning improved by 16%, dependency improved by 1%, driving improved by 2%, color vision improved by 7%, and peripheral vision improved by 9%.

Conclusion: We determined that anti-VEGF ranibizumab treatment improved objective parameters after one year of intravitreal therapy in LS, CRT and TMV. Subjective changes in visual perception improved in all the monitored parameters after one year of treatment.

目的:使用斯洛伐克版的国际NEI VFQ-25问卷,评估糖尿病黄斑水肿患者玻璃体内注射雷尼单抗治疗期间日常生活中主观视力的变化。材料与方法:在一项前瞻性研究中,对30例初治患者48只眼进行评估,符合适应症标准。我们用字母评分(LS)、眼内压(IOP)、视网膜中央厚度(CRT)和黄斑总体积(TMV)来确定最佳矫正视力。患者在治疗前、治疗后3个月、6个月和12个月分别接受NEI VFQ-25问卷调查。结果:治疗前LS平均68.1个字母,IOP 17.6 mmHg, CRT 480.5 μm, TMV 11.2 mm3。经过12个月的玻璃体内治疗,LS平均为72.6个字母,IOP为17.0 mmHg, CRT为332.4 μm, TMV为9.3 mm3。治疗前后12个月主观视觉知觉数据比较:整体健康知觉改善了7%,整体视力改善了15%,眼痛减少了8%,近视力改善了12%,远距离活动改善了5%,社交功能改善了4%,心理健康改善了6%,功能障碍改善了16%,依赖性改善了1%,驾驶能力改善了2%,色觉改善了7%,周边视力改善了9%。结论:我们确定抗vegf雷尼单抗治疗改善了LS、CRT和TMV患者玻璃体内治疗一年后的客观参数。治疗一年后,所有监测参数的主观视觉知觉变化均有所改善。
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引用次数: 0
Clinical Results Following the Implantation of a New Toric Intraocular Lens with Extended Depth of Focus. 扩焦深度新型环形人工晶状体植入术的临床效果。
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.31348/2025/25
Simona Jančárová, Marie Němcová, Pavel Rozsíval, Viktor Ladislav Nováček

Purpose:  To evaluate the clinical outcomes following the implantation of a new toric intraocular lens (TIOL) with extended depth of focus (EDOF) Bi-Flex ELON Toric POB-MA 877PETY (Elon®, Medicontur Medical Engineering Ltd., Zsámbék, Hungary), including analysis of lens rotational stability and assessment of patient satisfaction.

Material and methods:  In a retrospective, monocentric clinical study, 29 eyes of 18 patients (11 men and 7 women) with presbyopia, cataracts, and corneal astigmatism were evaluated. These patients underwent uncomplicated cataract surgery with Bi-Flex ELON Toric TIOL implantation. Postoperative assessments included measurements of monocular uncorrected and corrected distance visual acuity (UDVA, CDVA) and near visual acuity (UNVA, CNVA), rotational stability of the TIOL, and subjective evaluation of visual quality using a questionnaire. Follow-up examinations were conducted 6 months postoperatively (ranging from 3 to 9 months).

Results:  The mean postoperative monocular UDVA improved from 0.4 ±0.2 to 0.90 ±0.1 (p.

目的:评价Bi-Flex ELON toric POB-MA 877PETY (ELON®,Medicontur医学工程有限公司,Zsámbék,匈牙利)人工晶状体植入术后的临床效果,包括晶状体旋转稳定性分析和患者满意度评估。材料和方法:对18例老花、白内障和角膜散光患者(男11例,女7例)29只眼进行回顾性、单中心临床研究。这些患者接受了简单的白内障手术并植入了双flex ELON Toric TIOL。术后评估包括测量单眼未矫正和矫正的距离视力(UDVA, CDVA)和近视力(UNVA, CNVA), TIOL的旋转稳定性,以及使用问卷对视觉质量进行主观评价。术后6个月(3 ~ 9个月)随访。结果:术后平均单眼UDVA由0.4±0.2提高到0.90±0.1 (p. 0。
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引用次数: 0
Choroidal Neovascular Membrane in Pediatric Patients: Long-Term Outcomes of Anti-VEGF Therapy. 儿科患者脉络膜新生血管膜:抗vegf治疗的长期结果。
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.31348/2025/33
Kamila Pavlíková, Inka Krejčířová, Rudolf Autrata, Kateřina Šenková, Veronika Matušková

Aim: To evaluate the epidemiological data, etiology and clinical characteristics, and to assess the efficacy and safety of intravitreal anti-vascular endothelial growth factor (anti-VEGF) therapy in the treatment of choroidal neovascular membrane (CNV) in children and adolescents. The results are compared with data from previously published studies and case reports.

Material and methods: Retrospective analysis of medical records of patients treated for CNV at the Department of Pediatric Ophthalmology, University Hospital Brno, between January 2015 and April 2025. The cohort consisted of 12 patients, including 7 males and 5 females. All the cases involved unilateral disease; the right eye was affected in 7 patients and the left eye in 5. The mean age at onset was 11.8 years (range: 3-17 years). All underwent a comprehensive ophthalmological examination including optical coherence tomography (OCT); in 7 cases the diagnosis was confirmed by fluorescein angiography. The evaluated parameters included epidemiological data, clinical and morphological characteristics of CNV before and after anti-VEGF therapy. The etiology of CNV in our cohort was as follows: post-inflammatory/post-infectious in 6 cases, idiopathic in 3 cases, and one case each of myopic, post-traumatic, and neoplastic origin. The most common localization was subfoveal. All CNV lesions were classified as classic (type 2).

Results: All patients achieved either anatomical or functional improvement. No ocular or systemic adverse effects related to intravitreal anti-VEGF therapy were observed during the study period.

Conclusion: Early diagnosis and intervention with anti-VEGF therapy show favorable outcomes, including stabilization and remission of the disease. In our cohort, no adverse events or complications associated with intravitreal anti-VEGF administration were recorded. Continued research is essential in order to gain a further understanding of the pathogenesis of pediatric CNV and to optimize treatment strategies in children.

目的:评价玻璃体内抗血管内皮生长因子(anti-VEGF)治疗儿童及青少年脉络膜新生血管膜(CNV)的流行病学资料、病因学及临床特点,评价其疗效及安全性。结果与先前发表的研究和病例报告的数据进行了比较。材料和方法:回顾性分析2015年1月至2025年4月布尔诺大学医院小儿眼科收治的CNV患者的病历。该队列包括12例患者,其中男性7例,女性5例。所有病例均为单侧病变;右眼受累7例,左眼受累5例。平均发病年龄11.8岁(范围3-17岁)。所有患者都接受了全面的眼科检查,包括光学相干断层扫描(OCT);7例经荧光素血管造影确诊。评估参数包括抗vegf治疗前后CNV的流行病学资料、临床和形态学特征。我们队列中CNV的病因如下:6例为炎症后/感染后,3例为特发性,近视、创伤后和肿瘤源各1例。最常见的定位是中央凹下。所有CNV病变均为典型(2型)。结果:所有患者均获得解剖或功能改善。在研究期间,没有观察到与玻璃体内抗vegf治疗相关的眼部或全身不良反应。结论:早期诊断和干预抗vegf治疗显示良好的结果,包括疾病的稳定和缓解。在我们的队列中,没有记录与玻璃体内抗vegf给药相关的不良事件或并发症。为了进一步了解儿童CNV的发病机制和优化儿童的治疗策略,继续研究是必不可少的。
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引用次数: 0
The Effect of Retinal Tear Location and Internal Tamponade on The Success of Pars Plana Vitrectomy in Patients with Uncomplicated Retinal Detachment. 视网膜裂孔定位及内部填塞对非复杂性视网膜脱离玻璃体切割成功的影响。
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.31348/2024/41
Zbyněk Straňák, Miroslav Veith, Jan Dobaka, Martin Penčák, Karel Helman, Pavel Studený

Aim: Retinal detachment is an acute sight-threatening condition that requires immediate surgical intervention. The aim of this study is to compare the outcomes of pars plana vitrectomy (PPV) for uncomplicated rhegmatogenous retinal detachment (RRD) between the different types of gases used, the position, and the number of tears.

Material and methods: This is a retrospective non-randomized comparative study of patients with uncomplicated RRD treated at the Department of Ophthalmology from March 2018 to April 2021 using PPV. A total of 494 evaluated eyes were included in the study. The anatomical success of the surgery was monitored with regard to the extent of retinal detachment, the number and position of tears, and the tamponade used.

Results: The success rate of retinal reattachment with a single operation was 90.7% (448 eyes), and the final anatomical success rate was 100%. A very weak paired relationship was found between the success of the surgery for tears in the 4-8 hours region and the 9-3 hours region (89.1% vs. 92%). Similarly, no significant differences were observed between procedures using SF6 and C3F8 gases for RRD with a tear in the 4-8 hours region (success rate 93.4% for SF6 vs. 89.1% for C3F8). The average postoperative improvement of best corrected visual acuity was 29.6 ETDRS letters, and a gain of 15 letters was recorded in 55.1% (272 eyes). Overall, the complication rate was very low.

Conclusion: PPV is a safe and effective method for treating RRD. Extensive experience with this method allows the use of short-acting tamponades in selected patients.

目的:视网膜脱离是一种急性视力威胁条件,需要立即手术干预。本研究的目的是比较使用不同气体类型、位置和撕裂数量的玻璃体切割(PPV)治疗无并发症的孔源性视网膜脱离(RRD)的结果。材料和方法:这是一项回顾性非随机比较研究,研究对象是2018年3月至2021年4月在眼科使用PPV治疗的无并发症RRD患者。共有494只被评估的眼睛被纳入研究。手术的解剖成功是根据视网膜脱离的程度、撕裂的数量和位置以及使用的填塞来监测的。结果:单次手术视网膜再植成功率90.7%(448眼),最终解剖成功率100%。在4-8小时区域和9-3小时区域的撕裂手术成功率之间发现非常弱的成对关系(89.1%对92%)。同样,使用SF6和C3F8气体治疗4-8小时内撕裂的RRD没有明显差异(SF6的成功率为93.4%,而C3F8的成功率为89.1%)。术后最佳矫正视力平均改善29.6个ETDRS字母,其中55.1%(272眼)的最佳矫正视力增加15个字母。总的来说,并发症发生率很低。结论:PPV是治疗RRD安全有效的方法。这种方法的广泛经验允许在选定的患者中使用短效填塞。
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引用次数: 0
Quantifying Gaze Tracking for Visual Field Reliability Estimation. A Systematic Review. 用于视野可靠性估计的定量化凝视跟踪。系统评价。
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.31348/2025/38
Luisa Fernanda Peña-Pulgar, Alejandro Tello, María Fernanda Acuña, Virgilio Galvis

Aims:  This systematic review aimed to investigate whether quantitative metrics derived from gaze tracking (GT) outputs during visual field (VF) testing with an automated perimeter could enhance the evaluation of test reliability.

Materials and methods:  A systematic search of PubMed, Cochrane, LILACS, and IBECS databases, from inception to August 31, 2024, was conducted.

Results:  Eight studies - four cross-sectional and four cohort - met the inclusion criteria, comprising 8,181 visual field tests from 3,687 patients. The studies were categorized based on testing strategy: SITA Standard, Fast, and Faster. In the SITA Standard group, GT parameters were associated with visual field result reproducibility and the structure-function relationship in glaucoma, but were influenced by ocular surface variables. In the SITA Fast and Faster group, results were mixed: some studies suggested GT metrics could complement conventional reliability parameters, while others concluded that GT quantitative metrics did not offer clinically meaningful insights beyond existing methods.

Conclusion:  GT trace quantification shows promise as an objective reliability parameter for VF testing, particularly within the SITA Standard framework. Advanced image analysis techniques, including artificial intelligence, could facilitate automated GT parameter quantification, streamlining processes and supporting further studies to evaluate their impact on VF data reliability and clinical decision-making.

目的:本系统综述旨在探讨在具有自动周长的视野(VF)测试中,从注视跟踪(GT)输出中得出的定量指标是否可以增强测试可靠性的评估。材料和方法:系统检索PubMed、Cochrane、LILACS和IBECS数据库,检索时间从成立到2024年8月31日。结果:8项研究(4项横断面研究和4项队列研究)符合纳入标准,包括来自3,687名患者的8,181次视野测试。这些研究根据测试策略进行分类:SITA标准、快速和更快。在SITA标准组中,GT参数与青光眼的视野结果再现性和结构-功能关系相关,但受眼表变量的影响。在SITA Fast和Faster组中,结果是混合的:一些研究表明GT指标可以补充传统的可靠性参数,而另一些研究得出结论,GT定量指标不能提供比现有方法更有临床意义的见解。结论:GT痕量量化显示了作为VF测试的客观可靠性参数的希望,特别是在SITA标准框架内。包括人工智能在内的先进图像分析技术可以促进自动GT参数量化,简化流程,并支持进一步的研究,以评估其对VF数据可靠性和临床决策的影响。
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引用次数: 0
New Features in Screening of Retinopathy of Prematurity. Our Experience with New Recommendations for Retinopathy of Prematurity Screening. 早产儿视网膜病变筛查的新特点。我们对早产儿视网膜病变筛查新建议的经验。
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.31348/2025/23
Dana Tomčíková, Zuzana Prepiaková, Beáta Bušányová, Barbora Kostolná

Retinopathy of prematurity (ROP) is always a serious and sight-threatening condition, and its treatable stages require early detection and adequate treatment. It is necessary to focus on the principles of screening of ROP and recurrences thereof, which occur more often with the onset of intravitreal treatment using anti-vascular endothelial growth factor (anti-VEGF) agents. In this study, we evaluate the recurrence of ROP after primary treatment with intravitreally administered bevacizumab or ranibizumab, its frequency and timing of occurrence. Also discussed are the rules for screening of ROP, its recurrence and the need for long-term follow-up monitoring of children with any form of ROP.

早产儿视网膜病变(ROP)一直是一种严重和威胁视力的疾病,其可治疗阶段需要早期发现和适当的治疗。有必要关注ROP的筛查原则及其复发,这更常发生在使用抗血管内皮生长因子(anti-VEGF)药物的玻璃体内治疗的开始。在这项研究中,我们评估了通过玻璃体内给予贝伐单抗或雷尼单抗的原发性治疗后ROP的复发,其发生的频率和时间。还讨论了ROP的筛查规则,其复发以及对任何形式ROP的儿童进行长期随访监测的必要性。
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引用次数: 0
Evaluation of Morphological Changes in the Retina Using OCTA in Patients with Diabetic Macular Edema Treated with anti-VEGF Using ImageJ Software. ImageJ软件抗vegf治疗糖尿病黄斑水肿患者视网膜形态变化的OCTA评价
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.31348/2025/28
David Beran, Libor Hejsek, Jan Studnička

Aim:  To evaluate changes in the vascular density of the deep and superficial capillary plexus of the retina, the area of the foveal avascular zone, central retinal thickness, and best corrected visual acuity in patients with diabetic macular edema treated with anti-VEGF agents.

Material and methods:  In a prospective study at the Ophthalmology Clinic of FNHK, we evaluated a group of 41 eyes of 30 patients (19 men and 11 women) with diabetic macular edema treated with Lucentis or Eylea. The average age of the patients was 61.7 ±11.3 years. Average initial visual acuity was 64.4 ±9.1 letters on ETDRS optotypes. During the one-year follow-up period we monitored the density of the deep and superficial retinal capillary plexus using OCTA. We evaluated OCTA scans with the ImageJ program at 3, 6, 9, and 12 months. Additionally, the area of the foveal avascular zone, central retinal thickness, and best-corrected visual acuity were measured.

Results:  During the one-year follow-up period there was a statistically significant change in both retinal capillary plexuses, with the density of the deep capillary plexus increasing (p.

目的:探讨抗vegf药物对糖尿病性黄斑水肿患者视网膜深浅毛细血管丛血管密度、中央凹无血管区面积、视网膜中央厚度及最佳矫正视力的影响。材料和方法:在FNHK眼科诊所进行的一项前瞻性研究中,我们评估了30例41只眼的糖尿病黄斑水肿患者(19男11女)使用Lucentis或Eylea治疗。患者平均年龄61.7±11.3岁。ETDRS视型的平均初始视敏度为64.4±9.1字母。在一年的随访期间,我们使用OCTA监测视网膜深浅毛细血管丛的密度。我们在3、6、9和12个月时用ImageJ程序评估OCTA扫描。此外,测量中央凹无血管区面积、视网膜中央厚度和最佳矫正视力。结果:随访1年,两组视网膜毛细血管丛变化均有统计学意义,深毛细血管丛密度增加(p。
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引用次数: 0
Two-year results of Preserflo Microshunt use in Open-angle Glaucoma Surgery. Preserflo微分流器在开角青光眼手术中的两年疗效。
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.31348/2025/9
Veronika Fialová, Martin Váša, Pavel Rozsíval, Jitka Kalinová, Jan Studnička

Aim: To evaluate the safety and efficacy outcomes of PRESERFLO™ MicroShunt implantation in patients with primary open-angle glaucoma.

Material and methods: Retrospective data analysis of 19 eyes of 12 patients, comprising 5 females and 7 males. The patients underwent surgery between August 2020 and February 2022. The follow-up period was 24 months after surgery. During the follow-up period, intraocular pressure (IOP), the need to apply topical antiglaucoma medication and its spectrum, visual field status, optic nerve target findings and postoperative complications were recorded. The indication for PRESERFLO™ MicroShunt implantation was primary open angle glaucoma (POAG), poorly controlled with maximum tolerated medical therapy.

Results: Average IOP was reduced from 19.05 ±5.58 mmHg preoperatively to 11.47 ±2.48 mmHg at 3 months postoperatively, 12.26 ±2.48 mmHg at 6 months postoperatively, 14.0 ±2.43 mmHg at 12 months postoperatively, 11.78 ±2.37 mmHg at 18 months postoperatively, and 12.73 ±2.51 mmHg at 24 months postoperatively (p.

目的:评价PRESERFLO™MicroShunt植入术治疗原发性开角型青光眼的安全性和有效性。材料与方法:回顾性分析12例患者19眼的资料,其中女5例,男7例。这些患者在2020年8月至2022年2月期间接受了手术。术后随访24个月。随访期间记录眼内压(IOP)、外用抗青光眼药物的需求及其谱、视野状况、视神经靶点表现及术后并发症。PRESERFLO™MicroShunt植入术的适应症是原发性开角型青光眼(POAG),在最大耐受药物治疗下控制不良。结果:平均IOP由术前19.05±5.58 mmHg降至术后3个月11.47±2.48 mmHg,术后6个月12.26±2.48 mmHg,术后12个月14.0±2.43 mmHg,术后18个月11.78±2.37 mmHg,术后24个月12.73±2.51 mmHg (p < 0.05)。
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引用次数: 0
Mitochondrial Retinopathy Due to MT-TL1 Mutation: The Role of Heteroplasmy. A Case Report. MT-TL1突变引起的线粒体视网膜病变:异质性的作用。一个病例报告。
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.31348/2025/8
Mauricio Arango, Sarita Restrepo, Antonia Maria Orrego, Sara Turizo, Karol Quintero-Lizcano

Objective: To report a case of mitochondrial retinopathy, highlighting its clinical and imaging findings, the importance of genetic confirmation, and the possible implications of heteroplasmy in this disease.

Material and methods: Case report of a mitochondrial retinopathy secondary to m.3243A>G mutation in the MT-TL1 gene.

Results: A 32-year-old woman presented with bilateral vision loss, photophobia, and sensorineural hearing loss for more than 3 years. Best corrected visual acuity (BCVA) was 20/60 in the right eye (OD) and 20/25 in the left eye (OS). Fundus examination revealed multiple macular subretinal yellow-white deposits and central chorioretinal atrophy, without edema, hemorrhage, or subretinal fluid in the RE, and juxtafoveal atrophy with retinal pigment epithelium (RPE) metaplasia in the OS. Multimodal imaging raised suspicion of retinal dystrophy, and genetic testing confirmed a mitochondrial retinopathy secondary to the m.3243A>G mutation in the MT-TL1 gene.

Conclusions: Bilateral and symmetric RPE atrophic changes in young individuals, especially when associated with systemic symptoms, should prompt a comprehensive evaluation, including multimodal imaging and genetic testing. Identifying causative mutations and understanding the dynamics of mitochondrial DNA in the pathogenesis of these diseases is crucial for improving diagnosis and suggesting potential therapeutic strategies, including gene therapy.

目的:报告1例线粒体视网膜病变,强调其临床和影像学表现,遗传学证实的重要性,以及异质性在该疾病中的可能意义。材料与方法:MT-TL1基因m.3243A>;G突变继发的线粒体视网膜病变病例报告。结果:32岁女性,双侧视力减退、畏光、感音神经性听力丧失3年多。最佳矫正视力(BCVA)为右眼(OD) 20/60,左眼(OS) 20/25。眼底检查显示多发性黄斑视网膜下黄白色沉积物和中央绒毛膜视网膜萎缩,眼底无水肿、出血或视网膜下积液,眼底无视网膜色素上皮(RPE)化生。多模态成像引起了视网膜营养不良的怀疑,基因检测证实了线粒体视网膜病变继发于MT-TL1基因的m.3243A>;G突变。结论:年轻人双侧和对称的RPE萎缩改变,特别是与全身性症状相关时,应进行综合评估,包括多模式成像和基因检测。确定致病突变和了解线粒体DNA在这些疾病发病机制中的动态对于提高诊断和提出潜在的治疗策略(包括基因治疗)至关重要。
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引用次数: 0
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