Archivos De La Sociedad Espanola De Oftalmologia最新文献

英文中文

Retinosis pigmentaria autosómica dominante: informe de una familia extensa con la variante Asp-190-Tyr 常染色体显性色素视网膜病变：Asp-190-Tyr变异型的一个大家族的报告

Q3 Medicine

Archivos De La Sociedad Espanola De Oftalmologia

Pub Date : 2025-10-01 DOI: 10.1016/j.oftal.2025.06.002

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 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 autosomal dominant 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基因常染色体显性变异（Asp-190-tyr）。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基因常染色体显性变异，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。

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引用次数: 0

Evaluación oculomotora automatizada en el glaucoma congénito primario mediante un dispositivo DIVE: un estudio piloto de fijación, seguimiento ocular y movimientos sacádicos 使用DIVE装置对原发性先天性青光眼进行自动眼动评估：固定、眼动跟踪和骶骨运动的试点研究

Q3 Medicine

Archivos De La Sociedad Espanola De Oftalmologia

Pub Date : 2025-10-01 DOI: 10.1016/j.oftal.2025.06.016

L. Morales-Fernandez, C. Heredia-Pastor, P. Talavero, I. Collado, J. Garcia-Feijoo, R. Gomez-de-Liaño

Purpose

Primary congenital glaucoma (PCG) is a significant cause of childhood vision loss. While visual acuity can be measured, it does not always reflect visual functioning in daily life, particularly as oculomotor skills are often compromised in ocular disorders. This pilot study assesses oculomotor behavior in children with PCG compared to healthy peers using the device for an integral visual examination.

Methods

Twelve children with PCG (n = 24 eyes) and 24 healthy children (n = 48 eyes), aged 6 months to 4 years, were recruited. The device for an integral visual examination was used for automated oculomotor assessments, measuring fixation (gaze stability, fixation stability, and duration of fixation), saccadic movements (reaction time, peak velocity), and smooth pursuit (latency, gain).

Results

PCG children showed significantly poorer gaze stability in both short (0.68 log degree² [0.29 to 0.94] vs. 0.15 log degree² [−0.17 to 0.59]; p < 0.05) and long tasks (1.08 log degree² [0.79 to 1.84] vs. 0.57 log degree² [0.30 to 0.85]; p < 0.05), and poorer fixation stability in short (−0.20 log degree² [−0.27 to −0.17] vs. −0.48 log degree² [−0.55 to −0.30]; p < 0.05) and long tasks (−0.11 log degree² [−0.20 to −0.04] vs. −0.41 log degree² [−0.57 to −0.26]; p < 0.05). Fixation durations were shorter, and saccadic reaction times were longer in the PCG group, while pursuit latency showed no significant difference (p = 0.8118).

Conclusions

Children with PCG have significantly impaired oculomotor behavior, including greater instability in gaze and fixation, shorter fixation durations, and longer saccadic reaction times compared to healthy peers.

目的原发性先天性青光眼（PCG）是儿童视力丧失的重要原因。虽然视力可以测量，但它并不总是反映日常生活中的视觉功能，特别是在眼部疾病中，动眼力往往受到损害。本初步研究评估了与使用该设备进行整体视觉检查的健康同龄人相比，患有PCG的儿童的动眼肌行为。方法选取12例PCG患儿（n = 24眼）和24例健康儿童（n = 48眼），年龄6个月~ 4岁。整体视觉检查装置用于自动动眼力评估，测量注视（凝视稳定性、注视稳定性和注视持续时间）、扫视运动（反应时间、峰值速度）和平滑追踪（潜伏期、增益）。ResultsPCG孩子显示短期的目光更稳定(0.68日志degree2日志degree2(0.29 - 0.94)和0.15(−0.17到0.59);p & lt; 0.05)和长期任务(1.08日志degree2日志degree2(0.79 - 1.84)和0.57 (0.30 - 0.85);p & lt; 0.05),和贫穷固定稳定短(−0.20日志degree2(−0.27−0.17)与−0.48日志degree2(−0.55−0.30);p & lt; 0.05)和长期任务(−0.11日志degree2(−0.20−0.04)与−0.41日志degree2(−0.57−0.26);p & lt; 0.05)。PCG组注视时间较短，跳眼反应时间较长，追逐潜伏期差异无统计学意义（p = 0.8118）。结论与健康同龄人相比，PCG患儿的眼球运动行为明显受损，包括凝视和注视的不稳定性更大，注视持续时间更短，跳眼反应时间更长。

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引用次数: 0

Esotropía aguda durante una queratoconjuntivitis adenovírica 腺病毒角膜结膜炎期间的急性内收缩

Q3 Medicine

Archivos De La Sociedad Espanola De Oftalmologia

Pub Date : 2025-10-01 DOI: 10.1016/j.oftal.2025.01.014

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。

引用次数: 0

La conceptualización de los «líderes clave en evidencia» a partir de los «líderes de opinión»: una revisión también aplicable en oftalmología 从“意见领袖”中概念化“关键证据领袖”：同样适用于眼科的审查

Q3 Medicine

Archivos De La Sociedad Espanola De Oftalmologia

Pub Date : 2025-10-01 DOI: 10.1016/j.oftal.2025.02.010

J. Fernández , F. Ribeiro , H.B. Dick , T. Kohnen , C. Rocha-de-Lossada , M. Rodríguez-Vallejo

The collaboration of ophthalmologists with the industry, in their role as opinion leaders (OLs) who interpret, modify, and disseminate information to professional networks, is susceptible to bias. This review explores the critical role of OLs in the healthcare industry and their evolution into Key Evidence Leaders (KELs), emphasizing the importance of differentiating KELs from traditional OLs to promote evidence-based practices and maintain research integrity in healthcare. OLs often rely on their reputation and experience, which can make them susceptible to industry biases, particularly when financial incentives are involved. The concept of KELs marks a significant evolution from traditional OLs. Unlike OLs, KELs base their influence on expertise in clinical evidence and research, rather than personal experience or industry affiliations. KELs possess strong analytical skills, engage in interdisciplinary collaboration, and emphasize transparency and unbiased dissemination of information. The emergence of KELs represents a significant shift towards evidence-based leadership in healthcare. Differentiating KELs from traditional OLs is crucial for ensuring that the messages received by healthcare professionals are less biased. By supporting KELs who prioritize patient-centered evidence, the industry can enhance trust in the application of medical devices and drugs.

眼科医生与业界的合作，作为意见领袖（ol）的角色，他们解释、修改并向专业网络传播信息，容易产生偏见。本文探讨了关键证据领导者在医疗保健行业中的关键作用及其向关键证据领导者的演变，强调了将关键证据领导者与传统的关键证据领导者区分开来，以促进循证实践和保持医疗保健研究完整性的重要性。OLs通常依赖于他们的声誉和经验，这可能使他们容易受到行业偏见的影响，特别是在涉及财政激励的情况下。kel的概念标志着传统ol的重大演变。与ol不同，kol的影响力基于临床证据和研究方面的专业知识，而不是个人经验或行业关系。知识分子具有较强的分析能力，从事跨学科合作，并强调透明度和公正的信息传播。KELs的出现代表了医疗保健领域向循证领导的重大转变。区分kell与传统ol对于确保医疗保健专业人员收到的信息较少偏见至关重要。通过支持优先考虑以患者为中心的证据的kel，该行业可以增强对医疗设备和药物应用的信任。

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引用次数: 0

Disfunción visual progresiva y neurodegeneración retiniana en pacientes con fibromialgia 纤维肌痛患者的进行性视力障碍和视网膜神经退行性变

Q3 Medicine

Archivos De La Sociedad Espanola De Oftalmologia

Pub Date : 2025-10-01 DOI: 10.1016/j.oftal.2025.06.015

E. Garcia-Martin , M.J. Vicente Altabás , 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.

Method

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 analysed 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。目的评价纤维肌痛（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，并与对照组进行比较。方法对85例FM患者和41名健康受试者进行全面的眼科检查，包括ETDRS视力评估（VA）、Pelli Robson对比敏感度评估（CSV）、Farnsworth和Lanthony D15色差评估和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，生物学）。结果FM患者5年后视功能参数及CGR厚度呈进行性变化。与对照组相比，FM患者的低对比度VA （p = 0.022）、颜色辨别（Lanthony's C指数，p = 0.006）和CGR厚度（鼻下区，p < 0.001）随随访时间变差。色觉变化与CGR变薄有关，但与疾病严重程度无相关性。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。

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引用次数: 0

Conexión molecular entre la superficie ocular y el inflamasoma. Nuevas perspectivas diagnósticas y terapéuticas 眼表面和炎症之间的分子连接。新的诊断和治疗方法

Q3 Medicine

Archivos De La Sociedad Espanola De Oftalmologia

Pub Date : 2025-10-01 DOI: 10.1016/j.oftal.2025.07.001

S. Mora-Sáez , I. Andrés-Blasco , J. Benítez-del-Castillo-Sánchez , V. Zanón-Moreno , C. Peris-Martínez , M.D. Pinazo-Durán

引用次数: 0

El rol de la OCT de segmento anterior en queratitis ulcerativa periférica 前段OCT在周围溃疡性角膜炎中的作用

Q3 Medicine

Archivos De La Sociedad Espanola De Oftalmologia

Pub Date : 2025-10-01 DOI: 10.1016/j.oftal.2025.03.004

C. Parés-Alfonso, D. Oliver-Gutiérrez, E. Ros-Sanchez

引用次数: 0

Reconstrucción de párpado superior tras mordedura de perro mediante el uso de injerto compuesto en edad pediátrica 在狗咬伤后使用儿科复合移植重建上眼睑

Q3 Medicine

Archivos De La Sociedad Espanola De Oftalmologia

Pub Date : 2025-10-01 DOI: 10.1016/j.oftal.2025.05.004

C.A. Gómez Lanz , B. Palmero Sánchez , M.V. Carmona Pérez , E. Nevado Sánchez

Eyelid lesions in children are always a surgical challenge. We present the case of a 2-year-old girl with subtotal amputation of the upper eyelid due to a dog bite. Immediate surgical reimplantation with a composite graft was performed, achieving complete functional recovery without affecting ocular closure. At 6 years of follow-up, the only sequel was the absence of eyelashes in the affected area. The use of composite grafts seems to be an effective option in this type of injuries, allowing good functional and aesthetic results without limiting future reconstructions.

儿童眼睑病变一直是一个手术挑战。我们提出的情况下，一个2岁的女孩与上眼睑次全截肢，由于狗咬。在不影响闭眼的情况下，立即进行复合移植手术，实现了完全的功能恢复。在6年的随访中，唯一的后遗症是患处没有睫毛。复合移植物的使用似乎是这类损伤的有效选择，可以获得良好的功能和美观效果，而不会限制未来的重建。

引用次数: 0

Osteoma primario gigante en la órbita: reporte de caso y revisión de la literatura 在轨的巨大原发性骨瘤：病例报告和文献综述

Q3 Medicine

Archivos De La Sociedad Espanola De Oftalmologia

Pub Date : 2025-10-01 DOI: 10.1016/j.oftal.2025.06.011

M. Dorronsoro, C. Pagano Boza

Osteoma is a benign, slow-growing bone tumor that primarily affects the jaw and paranasal sinuses. Intraorbital location, whether primary or secondary, is rare. Although it is generally asymptomatic, it can become symptomatic. As it grows, orbital osteoma can cause symptoms due to displacement and compression of the orbital contents posing a risk to vision.

This article is a literature review and case report of a large primary orbital osteoma in a 36-year-old woman, initially asymptomatic and later exhibiting a few symptoms despite significant displacement of the orbital structures that the tumor causes. Its handling was controversial for us because we did not have references on the approach we should be taking. To this date, no cases of asymptomatic intraorbital osteomas of this size have ever been published.

骨瘤是一种生长缓慢的良性骨肿瘤，主要影响下颌和鼻窦。眶内定位，无论是原发性还是继发性，都很少见。虽然它通常是无症状的，但它可以成为症状。随着眼眶骨瘤的生长，眼眶内容物的移位和压迫会引起症状，对视力构成威胁。这篇文章是一篇文献回顾和病例报告，一名36岁的女性，最初无症状，后来表现出一些症状，尽管肿瘤引起的眶结构明显移位。它的处理对我们来说是有争议的，因为我们没有关于我们应该采取的方法的参考资料。到目前为止，没有这种大小的无症状眶内骨瘤的病例被发表过。

引用次数: 0

Relevancia del hallazgo de popcorn en la retinopatía del prematuro 爆米花发现与早衰视网膜病变的相关性

Q3 Medicine

Archivos De La Sociedad Espanola De Oftalmologia

Pub Date : 2025-08-27 DOI: 10.1016/j.oftal.2025.06.018

E. Gracia-Rovira, A. Díaz Barrón, A.M. Duch Samper

引用次数: 0

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