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Ophthalmologic management in KID syndrome: Long-term clinical experience KID综合征的眼科治疗:长期临床经验。
Pub Date : 2025-10-01 DOI: 10.1016/j.oftale.2025.07.013
R. Estévez-Domínguez , C. Rocha-de-Lossada , M. Rodríguez-Calvo-de-Mora , J. Etxebarria-Ecenarro , J. García-Montesinos-Gutiérrez
Keratitis-ichthyosis-deafness (KID) syndrome is a rare disease caused by mutations in the GJB2 gene. This gene encodes the protein connexin 26, which is essential for gap junctions in the epidermis, inner ear and corneal epithelium. Clinically, it is characterised by dermal hyperkeratotic lesions, sensorineural deafness and chronic keratitis that is difficult to manage. We describe two siblings diagnosed with KID syndrome who were followed up in our department for more than 15 years. Both developed numerous ocular complications associated with chronic keratitis and limbar insufficiency that required multiple keratoplasties, systemic immunosuppression and even keratoprosthesis. This case is noteworthy for the long-term follow-up of this condition and the difficult ocular management, highlighting the importance of a multidisciplinary approach and personalised therapeutic strategies.
角膜炎-鱼鳞病-耳聋(KID)综合征是一种由GJB2基因突变引起的罕见疾病。该基因编码连接蛋白26,该蛋白对表皮、内耳和角膜上皮的间隙连接至关重要。临床上,它的特点是皮肤角化过度病变,感音神经性耳聋和难以治疗的慢性角膜炎。我们描述了两个被诊断为儿童多动症的兄弟姐妹,他们在我科随访超过15年。两人都出现了许多与慢性角膜炎和角膜缘功能不全相关的眼部并发症,需要多次角膜移植术、全身免疫抑制甚至角膜假体。该病例值得注意的是这种情况的长期随访和困难的眼部管理,突出了多学科方法和个性化治疗策略的重要性。
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引用次数: 0
Progressive visual dysfunction and retinal neurodegeneration in patients with fibromyalgia 纤维肌痛患者进行性视觉功能障碍和视网膜神经退行性变。
Pub Date : 2025-10-01 DOI: 10.1016/j.oftale.2025.06.008
E. Garcia-Martin , M.J. Vicente Altabas , E. Vilades Palomar , E. Orduna Hospital , B. Cordon Ciordia , J. Garcia-Campayo , M. Puebla-Guedea , M. Satue Palacian

Background

Pathophysiology of fibromyalgia is still not well known. There are certain theories than point out a possible neurodegeneration component.

Objectives

To evaluate variations in visual function parameters and in the macular ganglion cell layer (CGR) of patients with fibromyalgia (FM) over a period of 5 years, and compare these results with controls.

Methods

85 patients with FM and 41 healthy subjects underwent a complete ophthalmic evaluation, including assessment of visual acuity (VA) with ETDRS, contrast sensitivity vision (CSV) with Pelli Robson, color vision with Farnsworth and Lanthony D15 tests and retinal evaluation using Cirrus HD-OCT 3000 (Carl Zeiss, California). All subjects were re-evaluated after 5 years. It was also analyzed the association between progressive structural, functional and disease severity changes. Furthermore, patients were classified into three groups (1, atypical; 2, depressive; 3, biologic).

Results

Progressive changes were detected in visual function parameters and CGR thickness in FM patients after 5 years. Patients with FM presented worse low contrast VA (p = 0.022), color discrimination (Lanthony’s C index, p = 0.006) and decreased CGR thickness (nasal inferior, p < 0.001) over the follow up time, compared with controls. Changes in color vision were associated with CGR thinning, but no correlations with disease severity were observed.

Conclusions

It has been noticed progressive visual dysfunction and CGR loss in patients suffering from FM. The analysis of visual function parameters and CGR thickness using Cirrus OCT could be of value to control FM disease.
背景:纤维肌痛的病理生理机制尚不清楚。有一些理论指出了可能的神经变性成分。目的:评估纤维肌痛(FM)患者5年内视觉功能参数和黄斑神经节细胞层(CGR)的变化,并将这些结果与对照组进行比较。方法:85例FM患者和41名健康受试者进行了完整的眼科评估,包括ETDRS视力评估(VA)、Pelli Robson对比敏感度评估(CSV)、Farnsworth和Lanthony D15色盲测试和Cirrus HD-OCT 3000 (Carl Zeiss, California)视网膜评估。所有受试者在5年后重新评估。还分析了进行性结构、功能和疾病严重程度变化之间的关系。此外,将患者分为三组(1,非典型;2、抑郁;3、生物)。结果:FM患者5年后视功能参数及CGR厚度呈进行性变化。FM患者低对比度VA (p = 0.022)、色差(Lanthony’s C指数,p = 0.006)、CGR厚度(鼻下部,p)下降。结论:FM患者存在进行性视觉功能障碍和CGR下降。利用卷云OCT分析视觉功能参数和CGR厚度,对FM病的防治有一定的参考价值。
{"title":"Progressive visual dysfunction and retinal neurodegeneration in patients with fibromyalgia","authors":"E. Garcia-Martin ,&nbsp;M.J. Vicente Altabas ,&nbsp;E. Vilades Palomar ,&nbsp;E. Orduna Hospital ,&nbsp;B. Cordon Ciordia ,&nbsp;J. Garcia-Campayo ,&nbsp;M. Puebla-Guedea ,&nbsp;M. Satue Palacian","doi":"10.1016/j.oftale.2025.06.008","DOIUrl":"10.1016/j.oftale.2025.06.008","url":null,"abstract":"<div><h3>Background</h3><div>Pathophysiology of fibromyalgia is still not well known. There are certain theories than point out a possible neurodegeneration component.</div></div><div><h3>Objectives</h3><div>To evaluate variations in visual function parameters and in the macular ganglion cell layer (CGR) of patients with fibromyalgia (FM) over a period of 5 years, and compare these results with controls.</div></div><div><h3>Methods</h3><div>85 patients with FM and 41 healthy subjects underwent a complete ophthalmic evaluation, including assessment of visual acuity (VA) with ETDRS, contrast sensitivity vision (CSV) with Pelli Robson, color vision with Farnsworth and Lanthony D15 tests and retinal evaluation using Cirrus HD-OCT 3000 (Carl Zeiss, California). All subjects were re-evaluated after 5 years. It was also analyzed the association between progressive structural, functional and disease severity changes. Furthermore, patients were classified into three groups (1, atypical; 2, depressive; 3, biologic).</div></div><div><h3>Results</h3><div>Progressive changes were detected in visual function parameters and CGR thickness in FM patients after 5 years. Patients with FM presented worse low contrast VA (p = 0.022), color discrimination (Lanthony’s C index, p = 0.006) and decreased CGR thickness (nasal inferior, p &lt; 0.001) over the follow up time, compared with controls. Changes in color vision were associated with CGR thinning, but no correlations with disease severity were observed.</div></div><div><h3>Conclusions</h3><div>It has been noticed progressive visual dysfunction and CGR loss in patients suffering from FM. The analysis of visual function parameters and CGR thickness using Cirrus OCT could be of value to control FM disease.</div></div>","PeriodicalId":93886,"journal":{"name":"Archivos de la Sociedad Espanola de Oftalmologia","volume":"100 10","pages":"Pages 601-609"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144805421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Acute esotropia concurrent with adenoviral keratoconjunctivitis 急性内斜视并发腺病毒性角膜结膜炎。
Pub Date : 2025-10-01 DOI: 10.1016/j.oftale.2025.07.007
J. Moya-Roca , M. Lledó-Riquelme , E. Campos-Mollo , J. Hernández-Jiménez , C. Porcar-Plana , M. Lledó-Carreres , E. Navarro-Hernández
Acute acquired comitant esotropia is a rare manifestation of strabismus that has been used to describe an acute late-onset of esotropia with diplopia in a previously orthotropic individual. It often occurs in older children and adults and has been associated with multiple etiologies. Despite the multiple reports conducted its cause is still controversial. We describe a young patient with epidemic keratoconjunctivitis with an acute comitant esotropia. He had no underlying diseases and regained stereo acuity after surgical alignment of both eyes.
急性获得性共同性内斜视是斜视的一种罕见的表现,它被用来描述急性晚发性内斜视伴复视。它常发生在年龄较大的儿童和成人中,并与多种病因有关。尽管进行了多次报告,但其原因仍然存在争议。我们描述了一个年轻的患者与传染性角膜结膜炎急性内斜视。患者无基础疾病,双眼矫正后恢复立体视力。
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引用次数: 0
Risk of conjunctival colonization by cefuroxime-resistant bacteria in cataract surgery patients younger than 75 years and aged 75 or older 75岁以下和75岁以上白内障手术患者结膜中头孢呋辛耐药细菌定植的风险
Pub Date : 2025-10-01 DOI: 10.1016/j.oftale.2025.08.006
J.L. Urcelay-Segura , J.M. Bellón-Cano , T. Cuesta-Rodríguez , M.E. Fernández-Rubio

Background and objective

Bacteria isolated in postoperative endophthalmitis (PE) were reduced to cefuroxime-resistant bacteria in cataract surgery with intracameral cefuroxime as prophylaxis; age > 84 years was at risk for PEs caused by Gram-negative-bacteria and Staphylococci; no risks were identified for Enterococci, the most abundant isolations. The prevalence of Enterococci in the preoperative conjunctiva was associated with age > 74 years, diabetes, obesity, and dacryocystorhinostomy-history (DCR-history). The aim of the study is to differentiate the risk of age from that of other patient characteristics, establishing 2 different age groups.

Materials and methods

We conducted a retrospective cross-sectional study in a tertiary referral center. In 7,085 patients < 75 years old and 7,798 ≥ 75 years, the incidence rate ratio (IRR) of Enterococci, Enterobacteriaceae, Non-fermentative-Gram-negative-bacilli (NFGNB) and Coagulase-negative-Staphylococci (CNS) was calculated for the following factors: diabetes, obesity, DCR-history, sex-male, smoking-habit, and climate, using multivariate Poisson regression, IBM SPSS Statistic for Windows, version 25.0. Armonk, NY: IBM Corp.

Results

Diabetes, obesity, male-sex and smoking-habit were more prevalent in patients < 75 years old. The IRRs of Enterococci, Enterobacteriaceae and NFGNB were higher in this age group: [Enterococci IRRs: diabetes, 1.54 vs 1.42; obesity, 2.95 vs 1.50; DCR-history, 3.78 vs 1.08]; [Enterobacteriaceae IRRs: diabetes, 1.47 vs 1.13; obesity, 2.27 vs 1.99; male-sex, 1.76 vs 1.65]; [NFGNB IRRs: diabetes, 1.79 vs 1.16; autumn-weather, 2.05 vs 1.56]. Diabetes-obesity simultaneously: Enterobacteriaceae IRR, 3.30 vs 2.28; Enterococci IRR, 3.28 vs 1.62.

Conclusions

Diabetes, obesity and DCR-history increase the IRR of Enterococci, Enterobacteriaceae and NFGNB in patients < 75 years more than they actually do in patients ≥ 75.
背景与目的:白内障术后眼内炎(PE)中分离的细菌减少为头孢呋辛耐药菌;年龄0 ~ 84岁存在革兰氏阴性菌和葡萄球菌所致PEs的风险;未发现最丰富的分离株肠球菌的风险。术前结膜中肠球菌的流行与年龄、糖尿病、肥胖和泪囊造口史(DCR-history)有关。该研究的目的是区分年龄与其他患者特征的风险,建立了两个不同的年龄组。材料和方法:我们在一家三级转诊中心进行了回顾性横断面研究。在7085例< 75岁和7798例≥75岁的患者中,计算肠球菌、肠杆菌科、非发酵革兰氏阴性杆菌(NFGNB)和凝固酶阴性葡萄球菌(CNS)的发病率比(IRR),考虑以下因素:糖尿病、肥胖、dcr病史、性别-男性、吸烟习惯和气候,采用多变量泊松回归,IBM SPSS Statistic for Windows,版本25.0。结果:糖尿病、肥胖、男性性行为和吸烟习惯在< 75岁的患者中更为普遍。该年龄组肠球菌、肠杆菌科和NFGNB的IRRs较高:[肠球菌:糖尿病,1.54 vs 1.42;肥胖,2.95比1.50;dcr -病史(3.78 vs 1.08);[肠杆菌科IRRs:糖尿病,1.47 vs 1.13;肥胖,2.27 vs 1.99;男性(1.76 vs 1.65);[NFGNB irs:糖尿病,1.79 vs 1.16;秋天的天气,2.05 vs 1.56]。糖尿病-肥胖同时发生:肠杆菌科IRR, 3.30 vs 2.28;肠球菌IRR为3.28 vs 1.62。结论:糖尿病、肥胖和有dcr病史的患者< 75岁时肠球菌、肠杆菌科和NFGNB的IRR高于≥75岁患者。
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引用次数: 0
Macular ischaemia after inadvertent perforation of the eyeball and intravitreal injection of anesthetic agents during retrobulbar anaesthesia 眼球意外穿孔后黄斑缺血和球后麻醉期间玻璃体内注射麻醉剂。
Pub Date : 2025-10-01 DOI: 10.1016/j.oftale.2025.07.014
J.L. Sánchez-Vicente, M. Portillo-Martínez, J.V. Guijarro-Ambel, E.M. Gámez-Jiménez, E. Cosano-Palma, F. López-Herrero
Perforation of the eyeball during retrobulbar anesthesia is rarely reported. A case of inadvertent ocular perforation during retrobulbar anesthesia in cataract surgery is presented. Retinal complications and follow up after six months are described.
A 58-year-old man presented with vision loss following cataract surgery on his right eye by phacoemulsification and intraocular lens implantation under retrobulbar anaesthesia performed one week earlier. Visual acuity was 0.05. Fundus examination revealed a vitreous haemorrhage in the lower area. A rounded haemorrhage was present next to the lower temporal arcade with a possible entry orifice. Optical coherence tomography, tomographic angiography and fluorescein angiography showed retinal ischaemia in the juxtapapillary macular area.
The patient was followed for 6 months. Visual acuity improved to 0.5. Optical coherence tomography and tomographic angiography showed a reduction of the edema in the retinal layers, with a persistent loss of the inner nuclear and outer plexiform layer.
Accidental intravitreal injection of bupivacaine and lidocaine during retrobulbar anaesthesia can result in permanent visual impairment. Extreme attention should be paid to the injection technique to avoid this complication.
球后麻醉时眼球穿孔的报道很少。本文报告一例白内障手术中球后麻醉时不慎发生眼穿孔的病例。描述了视网膜并发症和六个月后的随访情况。一名58岁男性于一星期前接受右眼白内障手术,经超声乳化术及球后麻醉下人工晶状体植入术后出现视力丧失。视力0.05。眼底检查显示下区玻璃体出血。颞骨下拱廊旁有圆形出血,可能有进入口。光学相干断层扫描,断层血管造影和荧光素血管造影显示视网膜缺血在乳头旁黄斑区。随访6个月。视力提高到0.5。光学相干断层扫描和断层血管造影显示视网膜层水肿减少,内核层和外丛状层持续丢失,球后麻醉期间意外的玻璃体内注射布比卡因和利多卡因可导致永久性视力障碍。应特别注意注射技术,以避免这种并发症。
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引用次数: 0
Autosomal dominant retinitis pigmentosa: An extended family report of the Asp-190-Tyr variant 常染色体显性视网膜色素变性:Asp-190-Tyr变异的一个大家庭报告。
Pub Date : 2025-10-01 DOI: 10.1016/j.oftale.2025.07.009
P. Moreira Martins, C. Ferreira, E. Saraiva, P. Sepúlveda, L. Silva, F. Sousa-Neves

Introduction and objectives

Retinitis pigmentosa (RP) represents a spectrum of rod-cone inherited disorders with characteristic symptoms, and functional changes. The Asp-190-Tyr pathogenic variant of the RHO gene impairs rodopsin transport through the endoplasmic reticulum, leading to accumulation within photoreceptors, inducing cytotoxicity. This report presents the ophthalmologic phenotype of this rare variant.

Materials and methods

Retrospective study including patients from one extended family presenting with RP, with an autosomal dominant (AD) variant of the RHO gene (Asp-190-tyr). Baseline demographic/ophthalmologic data and ancillary testing was collected.

Results

Twelve individuals were included; eight had generalized RP. The mean age was 64 years - four were female. Genetic testing in 5/8 patients with RP revealed an AD variant in the RHO gene, with replacement of an aspartic acid with tyrosine at codon 190. Visual acuity ranged from no light perception to 6/10. Fundoscopy and fundus autofluorescence showed bilateral generalized RP pattern: optic disc pallor, bone spicules, and arterial narrowing. Perimetry in four patients showed tunnel vision. Electrophysiology revealed marked wave reduction in both pattern and flash ERG. Severe atrophy of the outer retinal layers with cystoid macular oedema was observed in 4/8 patients.

Conclusions

This study highlights the phenotype of the Asp-190-Tyr variant. Previously, it was described in a family with a regional pattern of RP and relatively preserved visual function. Our study changes this paradigm, with patients presenting with a generalized RP phenotype and significant visual impairment. The provided data may help offer accurate prognostic information to patients with this variant.
介绍和目的:色素性视网膜炎(RP)是一种具有特征性症状和功能改变的杆状锥体遗传性疾病。RHO基因的Asp-190-Tyr致病性变异体损害了通过内质网的视紫红质运输,导致光感受器内的积累,诱导细胞毒性。本报告介绍了这种罕见变异的眼科表型。材料和方法:回顾性研究,包括来自一个大家庭的RP患者,RHO基因(Asp-190-tyr)的常染色体显性(AD)变异。收集基线人口统计学/眼科数据和辅助测试。结果:共纳入12例;8例有广泛性RP。平均年龄为64岁,其中4人为女性。5/8 RP患者的基因检测显示,RHO基因存在AD变异,密码子190处的天冬氨酸被酪氨酸取代。视力范围从无光感到6/10。眼底镜及眼底自身荧光显示双侧全身性RP型:视盘苍白、骨刺、动脉狭窄。4例患者视野检查显示视野狭窄。电生理学显示,模式和闪光ERG均有明显的波减少。4/8患者视网膜外层严重萎缩伴囊样黄斑水肿。结论:本研究突出了Asp-190-Tyr变异的表型。以前,它被描述为一个具有区域性RP模式和相对保存的视觉功能的家庭。我们的研究改变了这一范式,患者表现为普遍的RP表型和明显的视力障碍。所提供的数据可能有助于为这种变异的患者提供准确的预后信息。
{"title":"Autosomal dominant retinitis pigmentosa: An extended family report of the Asp-190-Tyr variant","authors":"P. Moreira Martins,&nbsp;C. Ferreira,&nbsp;E. Saraiva,&nbsp;P. Sepúlveda,&nbsp;L. Silva,&nbsp;F. Sousa-Neves","doi":"10.1016/j.oftale.2025.07.009","DOIUrl":"10.1016/j.oftale.2025.07.009","url":null,"abstract":"<div><h3>Introduction and objectives</h3><div>Retinitis pigmentosa (RP) represents a spectrum of rod-cone inherited disorders with characteristic symptoms, and functional changes. The Asp-190-Tyr pathogenic variant of the RHO gene impairs rodopsin transport through the endoplasmic reticulum, leading to accumulation within photoreceptors, inducing cytotoxicity. This report presents the ophthalmologic phenotype of this rare variant.</div></div><div><h3>Materials and methods</h3><div>Retrospective study including patients from one extended family presenting with RP, with an autosomal dominant (AD) variant of the RHO gene (Asp-190-tyr). Baseline demographic/ophthalmologic data and ancillary testing was collected.</div></div><div><h3>Results</h3><div>Twelve individuals were included; eight had generalized RP. The mean age was 64 years - four were female. Genetic testing in 5/8 patients with RP revealed an AD variant in the RHO gene, with replacement of an aspartic acid with tyrosine at codon 190. Visual acuity ranged from no light perception to 6/10. Fundoscopy and fundus autofluorescence showed bilateral generalized RP pattern: optic disc pallor, bone spicules, and arterial narrowing. Perimetry in four patients showed tunnel vision. Electrophysiology revealed marked wave reduction in both pattern and flash ERG. Severe atrophy of the outer retinal layers with cystoid macular oedema was observed in 4/8 patients.</div></div><div><h3>Conclusions</h3><div>This study highlights the phenotype of the Asp-190-Tyr variant. Previously, it was described in a family with a regional pattern of RP and relatively preserved visual function. Our study changes this paradigm, with patients presenting with a generalized RP phenotype and significant visual impairment. The provided data may help offer accurate prognostic information to patients with this variant.</div></div>","PeriodicalId":93886,"journal":{"name":"Archivos de la Sociedad Espanola de Oftalmologia","volume":"100 10","pages":"Pages 585-591"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144700603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Bilateral parainfectious papillitis superimposed on papillary pseudoedema by optic nerve drusen 双侧感染性副乳头炎叠加视神经麻痹性乳头状假水肿。
Pub Date : 2025-09-01 DOI: 10.1016/j.oftale.2025.07.004
Javier Garulo Nicolás , Laura Manfreda Domínguez , Patricia Bayo Calduch , Sergio Obiol Ferrando , Andrea Català Nadal , Antonio Miguel Duch Samper
Papillary drusen are deposits of calcified hyaline material at the level of the optic nerve head. They are considered the most frequent cause of pseudopapilledema, so in clinical practice it is essential to identify and differentiate them from true optic disc oedema.
Parainfectious optic neuritis is an inflammatory optic neuropathy, usually bilateral and acute, which occurs between 1 and 3 weeks after an infectious disease. It usually occurs as a papillitis, since it is usually located in the head of the optic nerve causing optic disc oedema.
In this article we present an unusual case of bilateral papillitis superimposed on papillary drusen in a young male with Chlamydia trachomatis prostatitis. After an exhaustive etiological study, it was concluded that, in this patient, papillitis was associated with his sexually transmitted disease.
乳头状结节是视神经头水平的钙化透明物质沉积。它们被认为是假性视盘水肿最常见的原因,因此在临床实践中,必须将其与真正的视盘水肿进行鉴别和区分。副感染性视神经炎是一种炎性视神经病变,通常为双侧急性,发生于感染性疾病后1 - 3周。它通常以乳头炎的形式出现,因为它通常位于视神经的头部,引起视盘水肿。在这篇文章中,我们提出了一个不寻常的病例双侧乳头炎叠加乳头状囊肿在年轻男性与沙眼衣原体前列腺炎。经过详尽的病因学研究,得出结论,在这个病人中,乳头炎与他的性传播疾病有关。
{"title":"Bilateral parainfectious papillitis superimposed on papillary pseudoedema by optic nerve drusen","authors":"Javier Garulo Nicolás ,&nbsp;Laura Manfreda Domínguez ,&nbsp;Patricia Bayo Calduch ,&nbsp;Sergio Obiol Ferrando ,&nbsp;Andrea Català Nadal ,&nbsp;Antonio Miguel Duch Samper","doi":"10.1016/j.oftale.2025.07.004","DOIUrl":"10.1016/j.oftale.2025.07.004","url":null,"abstract":"<div><div>Papillary drusen are deposits of calcified hyaline material at the level of the optic nerve head. They are considered the most frequent cause of pseudopapilledema, so in clinical practice it is essential to identify and differentiate them from true optic disc oedema.</div><div>Parainfectious optic neuritis is an inflammatory optic neuropathy, usually bilateral and acute, which occurs between 1 and 3 weeks after an infectious disease. It usually occurs as a papillitis, since it is usually located in the head of the optic nerve causing optic disc oedema.</div><div>In this article we present an unusual case of bilateral papillitis superimposed on papillary drusen in a young male with <em>Chlamydia trachomatis</em> prostatitis. After an exhaustive etiological study, it was concluded that, in this patient, papillitis was associated with his sexually transmitted disease.</div></div>","PeriodicalId":93886,"journal":{"name":"Archivos de la Sociedad Espanola de Oftalmologia","volume":"100 9","pages":"Pages 558-562"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144683793","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Stargardt disease due to ABCA4 mutation in a young adult: Case report and current alternatives for optical and medical treatments 年轻成人因ABCA4突变引起的Stargardt病:病例报告和目前光学和医学治疗的替代方案
Pub Date : 2025-09-01 DOI: 10.1016/j.oftale.2025.07.005
D.V. Rey-Rodriguez , M.I. Gómez-Buitrago , M.J. Mateus Parra , L.A. Pazmiño La Rotta , L.F. Aguilar-Serrano
A patient with low vision has been followed by the optometry, ophthalmology, and genetics services since the age of 9, with a diagnosis of Stargardt disease. During follow-up, multiple tests have been performed: ocular angiography, genetic analysis, and visual evoked potential studies. The patient presents with a disease compatible with macular dystrophy, associated with the ABCA4 gene, which is slowly progressive and currently irreversible, with no effective treatment available. The patient is currently managed for low vision and has visual aids that allow them to function in daily life and develop professionally. The focus on low vision management in patients with diseases that irreversibly affect vision is of great importance to ensure these patients can achieve proper development in society.
一名低视力患者自9岁起接受验光、眼科和遗传学服务,诊断为Stargardt病。在随访期间,进行了多项检查:眼血管造影、基因分析和视觉诱发电位研究。患者表现为与ABCA4基因相关的黄斑营养不良相容的疾病,进展缓慢,目前不可逆,没有有效的治疗方法。该患者目前因视力低下而接受治疗,并有视觉辅助设备,使他们能够在日常生活中发挥作用,并在专业上发展。关注对视力有不可逆影响的疾病患者的低视力管理,对于确保这些患者在社会上的正常发展具有重要意义。
{"title":"Stargardt disease due to ABCA4 mutation in a young adult: Case report and current alternatives for optical and medical treatments","authors":"D.V. Rey-Rodriguez ,&nbsp;M.I. Gómez-Buitrago ,&nbsp;M.J. Mateus Parra ,&nbsp;L.A. Pazmiño La Rotta ,&nbsp;L.F. Aguilar-Serrano","doi":"10.1016/j.oftale.2025.07.005","DOIUrl":"10.1016/j.oftale.2025.07.005","url":null,"abstract":"<div><div>A patient with low vision has been followed by the optometry, ophthalmology, and genetics services since the age of 9, with a diagnosis of Stargardt disease. During follow-up, multiple tests have been performed: ocular angiography, genetic analysis, and visual evoked potential studies. The patient presents with a disease compatible with macular dystrophy, associated with the ABCA4 gene, which is slowly progressive and currently irreversible, with no effective treatment available. The patient is currently managed for low vision and has visual aids that allow them to function in daily life and develop professionally. The focus on low vision management in patients with diseases that irreversibly affect vision is of great importance to ensure these patients can achieve proper development in society.</div></div>","PeriodicalId":93886,"journal":{"name":"Archivos de la Sociedad Espanola de Oftalmologia","volume":"100 9","pages":"Pages 571-575"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144683794","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Biotechnological novel drug delivery systems for age-related macular degeneration 生物技术新药物递送系统治疗老年性黄斑变性。
Pub Date : 2025-09-01 DOI: 10.1016/j.oftale.2025.07.010
S. Amatha , R. Das , M.K. Gautam , S. Mondal
Recent years have witnessed remarkable advancements in biotechnological ocular drug delivery systems, introducing novel strategies such as gene therapy, cell-based systems, and targeted carriers. This article focuses specifically on age-related macular degeneration (AMD), the most prevalent ocular condition. While gene therapy holds promise for AMD treatment, it also presents significant challenges, leading to the exploration of cell-based therapy as a complementary or alternative approach. To address these hurdles and ensure successful market translation, new companies often form collaborative expert teams encompassing all relevant fields, including regulatory affairs. As medical science continues to evolve, a comprehensive understanding of gene therapy, cell-based delivery, biocompatibility, safety considerations, regulatory aspects, and ongoing clinical trials is essential to fully grasp the safety and effectiveness of these novel ocular therapies. Consequently, this paper primarily explores these key areas. The successful evolution of biotechnological ocular delivery signals a positive shift towards personalized medicine, which is expected to significantly improve the quality of life for AMD patients in the near future.
近年来,生物技术眼科药物输送系统取得了显著进展,引入了基因治疗、细胞系统和靶向载体等新策略。这篇文章特别关注年龄相关性黄斑变性(AMD),最常见的眼部疾病。虽然基因疗法有望治疗AMD,但它也提出了重大挑战,导致以细胞为基础的治疗作为补充或替代方法的探索。为了解决这些障碍并确保成功的市场翻译,新公司通常会组建包括监管事务在内的所有相关领域的协作专家团队。随着医学科学的不断发展,全面了解基因治疗、细胞传递、生物相容性、安全性考虑、监管方面以及正在进行的临床试验对于充分掌握这些新型眼科疗法的安全性和有效性至关重要。因此,本文主要探讨这些关键领域。生物技术眼部移植的成功发展标志着个性化医疗的积极转变,有望在不久的将来显著改善AMD患者的生活质量。
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引用次数: 0
Evaluation of the effectiveness of Ahmed's valve implantation adding mitomicin C in patients with refractory glaucoma after one year of follow-up 加入肌霉素c的艾哈迈德瓣膜植入物在难治性青光眼患者随访一年的疗效评价。
Pub Date : 2025-09-01 DOI: 10.1016/j.oftale.2025.07.008
O. Teherán , C. Parra , E. Ramos , M. Ochoa , W. Escobar

Purpose

To evaluate the effectiveness and safety of mitomycin C (MMC) use when implanting Ahmed valve in patients with refractory glaucoma.

Methods

Cohort study involving 34 patients divided into two groups of 17 patients each: Group 1 (MMC use) and Group 2 (no MMC use), with a one-year follow-up. Complete success was defined as intraocular pressure (IOP) between 6−18 mmHg without the use of antiglaucoma medications; qualified success referred to the same IOP range but associated with antiglaucoma medications, while failure was characterized by IOP outside this range, severe complications or reintervention.

Results

The overall success rate in Group 1 was 88.2%, and in Group 2, 94.2%. There was an average reduction in IOP of 18.0-± 11.5 mmHg in Group 1 and 11.3 ± 5.0 mmHg in Group 2. The hypertensive phase occurred in 17.6% of the participants in the first group and the second, 70.6%.

Conclusions

The use of MMC decreases the hypertensive phase observed in Ahmed valve implant surgery, thereby achieving better IOP control.
目的:评价丝裂霉素C (MMC)在难治性青光眼患者艾哈迈德瓣膜植入术中的有效性和安全性。方法:将34例患者分为两组,每组17例:1组(使用MMC)和2组(未使用MMC),随访1年。在没有使用抗青光眼药物的情况下,眼内压(IOP)在6-18 mmHg之间是完全成功的定义;合格的成功是指相同的IOP范围,但与抗青光眼药物相关,而失败的特征是IOP超出该范围,严重的并发症或再干预。结果:1组总成功率为88.2%,2组总成功率为94.2%。组1平均眼压降低18.0±11.5 mmHg,组2平均眼压降低11.3±5.0 mmHg。第一组和第二组高血压期分别为17.6%和70.6%。结论:MMC的使用减少了Ahmed瓣膜置换术中观察到的高血压期,从而达到更好的IOP控制。
{"title":"Evaluation of the effectiveness of Ahmed's valve implantation adding mitomicin C in patients with refractory glaucoma after one year of follow-up","authors":"O. Teherán ,&nbsp;C. Parra ,&nbsp;E. Ramos ,&nbsp;M. Ochoa ,&nbsp;W. Escobar","doi":"10.1016/j.oftale.2025.07.008","DOIUrl":"10.1016/j.oftale.2025.07.008","url":null,"abstract":"<div><h3>Purpose</h3><div>To evaluate the effectiveness and safety of mitomycin C (MMC) use when implanting Ahmed valve in patients with refractory glaucoma.</div></div><div><h3>Methods</h3><div>Cohort study involving 34 patients divided into two groups of 17 patients each: Group 1 (MMC use) and Group 2 (no MMC use), with a one-year follow-up. Complete success was defined as intraocular pressure (IOP) between 6−18 mmHg without the use of antiglaucoma medications; qualified success referred to the same IOP range but associated with antiglaucoma medications, while failure was characterized by IOP outside this range, severe complications or reintervention.</div></div><div><h3>Results</h3><div>The overall success rate in Group 1 was 88.2%, and in Group 2, 94.2%. There was an average reduction in IOP of 18.0-± 11.5 mmHg in Group 1 and 11.3 ± 5.0 mmHg in Group 2. The hypertensive phase occurred in 17.6% of the participants in the first group and the second, 70.6%.</div></div><div><h3>Conclusions</h3><div>The use of MMC decreases the hypertensive phase observed in Ahmed valve implant surgery, thereby achieving better IOP control.</div></div>","PeriodicalId":93886,"journal":{"name":"Archivos de la Sociedad Espanola de Oftalmologia","volume":"100 9","pages":"Pages 521-527"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144700659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
Archivos de la Sociedad Espanola de Oftalmologia
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