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Variante patogénica de KMT2D c.6341del (p.Gly2114Alafs*30) y evaluación multimodal de su fenotipo en una mujer hispano-mexicana con síndrome de Kabuki: informe de una nueva variante 致病性KMT2D c.6341del变异(p.Gly2114Alafs*30)及其在患有Kabuki综合征的西班牙裔墨西哥妇女中的多模态表型评估:新变异的报告
Q3 Medicine Pub Date : 2025-08-01 DOI: 10.1016/j.oftal.2025.04.007
L.A. Garza-Garza , A.P. Arizpe , R. Morales-Reyes , R.A. Villafuerte-de la Cruz , M. Garza-León

Introduction and objectives

Kabuki syndrome is a rare congenital malformation syndrome originally described by Niikawa et al. in 1981. A wide array of pathogenic variants and phenotypes have been described ever since. However, cases from Hispanic-Mexican populations evaluated with multimodal imaging are scarce. Therefore, the aim of this study is to report on the multimodal evaluation of a Hispanic-Mexican case with a novel pathogenic variant.

Materials and methods

Next generation sequencing was used to search for pathogenic variants in KMT2D in the proband and her parents and sibling. A full systemic and ophthalmological examination along with ancillary studies were undertaken.

Results

Only the proband had relevant findings and a compatible pathogenic variant in KMT2D. The systemic and ophthalmic phenotype correlates with previous reports of Kabuki syndrome. Ancillary studies of the retina, optic nerve, macular area, macular vascular flow and cornea were within normal limits. The novel detected pathogenic variant in the proband was c.6341del (p.Gly2114Alafs*30) in KMT2D.

Conclusions

The present paper reports on a novel pathogenic variant in Kabuki syndrome. The multimodal imaging evaluation of the ophthalmic phenotype was within normal limits.
歌舞伎综合征是一种罕见的先天性畸形综合征,最初由Niikawa等人于1981年描述。从那时起,广泛的致病变异和表型被描述。然而,用多模式成像评估的西班牙裔墨西哥人病例很少。因此,本研究的目的是报告一种具有新型致病变异的西班牙裔墨西哥病例的多模式评估。材料与方法采用下一代测序技术在先证者及其父母、兄弟姐妹中寻找KMT2D致病变异。进行了全面的系统和眼科检查以及辅助研究。结果只有先证者在KMT2D中有相关发现和相容的致病变异。全身和眼部表型与先前报道的歌舞伎综合征相关。视网膜、视神经、黄斑区、黄斑血管流和角膜的辅助检查均在正常范围内。在KMT2D中检测到的新致病变异为c.6341del (p.Gly2114Alafs*30)。结论本文报道了一种新的歌舞伎综合征致病变异。眼部表型的多模态影像学评价在正常范围内。
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引用次数: 0
Excavación intracoroidea peripapilar 乳头周围软骨内挖掘
Q3 Medicine Pub Date : 2025-08-01 DOI: 10.1016/j.oftal.2025.03.002
J.C. Escribano Villafruela, A. Fuentes Zamora, L. Gómez Fernández, J.R. Ruiz Batrés, J.L. Urcelay Segura
Peripapillary Intrachoroidal Cavitation (PICC) can be appeared as an orangish lesion located at the outer lower edge of the myopic cone and confined to the intrachoroidal space. It is more common in patients with high myopia, older age, and greater axial length. The most accepted pathophysiological mechanism involves traction over a vulnerable sclera tissue at the myopic cone. PICC may present with visual field defects like mild glaucomatous neuropathy. Differential diagnosis with other choroidal pathologies is essential, and OCT-HD shows distinctive features in PICC. Additionally, OCT-A plays a crucial role in the diagnosis.
We present 3 patients with PICC from our center, all of whom share advanced age, increased axial length, and myopia. All cases exhibit characteristic imaging alterations and visual field defects likely associated with the pathology.
乳头周围脉络膜腔内空化(PICC)可表现为位于近视眼锥体外下缘的橙色病变,局限于脉络膜内间隙。在高度近视、年龄较大、眼轴长度较大的患者中更为常见。最被接受的病理生理机制涉及牵拉在一个脆弱的巩膜组织在近视锥。PICC可表现为视野缺损,如轻度青光眼神经病。与其他脉络膜病变的鉴别诊断是必要的,OCT-HD在PICC中显示出独特的特征。此外,OCT-A在诊断中起着至关重要的作用。我们报告了本中心的3例PICC患者,均为高龄、眼轴长度增加和近视。所有病例均表现出与病理相关的特征性影像学改变和视野缺陷。
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引用次数: 0
Manejo de las parálisis oculomotoras bilaterales tras un traumatismo craneoencefálico: a propósito de un caso 头脑外伤后双侧眼动麻痹的管理:以个案为目的
Q3 Medicine Pub Date : 2025-08-01 DOI: 10.1016/j.oftal.2025.03.005
P. Talavero-González, J. García-Bella, E. Hernández-García, E. Vico-Ruiz, Á. Romo-López, R. Gómez de Liaño-Sánchez
A 73-year-old male with disabling torticollis. He suffered a severe traumatic head injury when he had 36 years old, affecting multiple cranial nerves, including III, IV and VI bilaterally. On actual examination he presented a large torticollis left head turn that compensates the diplopía. In the right eye, -4 limitation of adduction, -1 limitation of elevation and horizontal nystagmus on abduction. In the left eye, -6 limitation of abduction, -2 limitation of adduction, -1 limitation of elevation and -2 limitation of depression (0-8 scale). The right eye underwent Nasal Nishida procedure and the left eye underwent a Temporal Nishida. One year after the surgery the patient was no longer maintaining a head turn but had a mild tilt to the right and inttermitent diplopía.
Nishida procedure can be a good option in cases of complex bilateral oculomotor paralysis.
73岁男性,患有致残性斜颈。他在36岁时遭受严重的颅脑外伤,累及多根脑神经,包括双侧III、IV、VI。在实际检查中,他提出了一个大的斜颈左头转动补偿diplopía。右眼内收-4限制,外展时抬高和水平眼震-1限制。左眼外展受限-6,内收受限-2,抬高受限-1,凹陷受限-2(0-8分)。右眼行鼻西田手术,左眼行颞西田手术。手术一年后,患者不再保持头部转动,但有轻微的向右倾斜和间歇性diplopía。对于复杂的双侧动眼肌麻痹,西田手术是一个很好的选择。
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引用次数: 0
Nuevo signo OCT en retinosquisis ligada al X sin esquisis macular: «fovea en tejado invertido» 无黄斑夹层的X型视网膜新近地天体(OCT):“倒置顶中央凹”
Q3 Medicine Pub Date : 2025-08-01 DOI: 10.1016/j.oftal.2025.02.001
P.B. Blasco Palacio, A. Aramburu-Gonzalez, I. Rodríguez García
We present the case of a 52-year-old man with a stable ophthalmological follow-up for the last 10 years. Clinically asymptomatic, except for floaters in both eyes. In the fundus, bilateral peripheral retinoschisis was observed without associated macular schisis. The electroretinogram (ERG) is electronegative and shows a genetic confirmation of the pathogenic variant c.461A >G; p.(Gln154Arg) of the RS1 gene compatible with the diagnosis of juvenile X-linked retinoschisis (RSLX). The foveal architecture in Optical Coherence Tomography (OCT) presents «inverted roof fovea» not previously described, having found two similar cases in the literature. In males in whom we find the sign of «inverted roof fovea», we should check the fundus, and if we find peripheral retinoschisis, we recommend insisting on the family history, and increase its study with an ERG and molecular genetic analysis, ruling out RSLX.
我们提出的情况下,52岁的男子稳定的眼科随访了过去的10年。临床无症状,双眼有飞蚊症。眼底观察到双侧外周视网膜裂,无黄斑裂。视网膜电图(ERG)呈电负性,遗传上证实了致病性变异c.461A >;G;与少年x连锁视网膜裂(RSLX)诊断相容的RS1基因p.(Gln154Arg)。光学相干断层扫描(OCT)的中央凹结构表现为先前未描述的“倒置屋顶中央凹”,在文献中发现了两个类似的病例。在男性患者中,如果我们发现“顶凹内翻”的迹象,我们应该检查眼底,如果我们发现周围性视网膜裂,我们建议坚持家族史,并通过ERG和分子遗传分析增加对其的研究,排除RSLX。
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引用次数: 0
Permetrina tópica al 5% como tratamiento para pacientes pediátricos con phthiriasis palpebrarum: a propósito de un caso 5%外用氯菊酯用于治疗小儿手帕虫病:以一个病例为例
Q3 Medicine Pub Date : 2025-08-01 DOI: 10.1016/j.oftal.2025.02.007
J. Noguera Campos, S. Pose Bazarra, N. Castro Casal, A. Urbano Bueno, M.D. Álvarez Díaz
Phthiriasis palpebrarum is defined as the involvement of the eyelids by the Phthirus pubis parasite. It is a pathology considered as a sexually transmitted disease, whose treatment can be challenging in some situations. We present the case of a 4-year-old patient with eyelashes severely affected by this parasite, who cooperated poorly for mechanical removal. Given this situation, we decided to prescribe a single dose of topical permethrin 5% and several applications of vaseline, repeating this treatment a week later, which led to the complete resolution of the condition. This case introduces topical permethrin 5% as an effective, safe and widely available option for the treatment of this pathology, especially for pediatric patients or those who do not cooperate adequately for mechanical removal of the parasites.
眼睑Phthirus pubis寄生虫累及眼睑。这是一种被认为是性传播疾病的病理学,在某些情况下,其治疗可能具有挑战性。我们提出的情况下,4岁患者的睫毛严重影响这种寄生虫,谁配合不佳机械去除。鉴于这种情况,我们决定开单剂量5%的局部氯菊酯和几次凡士林,一周后重复这种治疗,导致病情完全解决。本病例介绍了5%的局部氯菊酯作为治疗这种病理的一种有效、安全且可广泛获得的选择,特别是对于儿科患者或那些没有充分配合机械清除寄生虫的患者。
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引用次数: 0
Microcoria congénita: descripción de 3 casos en una familia 先天性小麻疹:一个家庭中3例的描述
Q3 Medicine Pub Date : 2025-08-01 DOI: 10.1016/j.oftal.2025.03.003
P. Merino, A. Fuentes, P. Gómez de Liaño, J. Ruiz
Congenital microcoria is a rare ocular anomaly characterized by pupil smaller than 2 mm with no response to mydriatic agents. It can present in 2 forms: autosomal recessive associated with Pierson syndrome and autosomal dominant isolated (associated with a high incidence of myopia and glaucoma). Studies have identified deletions in the 13q32.1 region of chromosome 13 that include the GPR180 gene, involved in smooth muscle cell growth, as the underlying cause in autosomal dominant cases. We describe 3 members of a family with deletion of the GPR180 gene on chromosome 13. In all, IOP was normal and gonioscopy showed iridocorneal angle dysgenesis with prominent ciliary processes. Congenital microcoria is due to poor development of the iris dilator muscle of genetic cause. Early diagnosis and continuous follow-up for possible complications such as amblyopia, progressive myopia and juvenile glaucoma is essential. Since the diagnoses of glaucoma described in the literature were mainly made in individuals between 20-30 years old.
先天性小眼珠是一种罕见的眼部异常,其特征是瞳孔小于2mm,对瞳孔抑制剂无反应。它可以表现为两种形式:常染色体隐性遗传与皮尔逊综合征相关和常染色体显性分离(与近视和青光眼的高发相关)。研究发现,在常染色体显性病例中,包括GPR180基因在内的13号染色体13q32.1区域缺失是导致平滑肌细胞生长的根本原因。我们描述了13号染色体上GPR180基因缺失的3个家族成员。总的来说,IOP正常,角镜显示虹膜角膜角发育不良,睫状突突出。先天性小角是由于虹膜扩张肌发育不良的遗传原因。弱视、进行性近视、青光眼等并发症的早期诊断和持续随访至关重要。由于文献中对青光眼的诊断主要集中在20-30岁之间。
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引用次数: 0
Coriorretinopatía pigmentaria por déficit de 3-hidroxiacil-CoA-deshidrogenasa de cadena larga (LCHAD): un caso clínico con seguimiento a largo plazo 缺乏3-羟基-辅酶a长链脱氢酶(LCHAD)引起的色素性科里视网膜病:一个长期随访的临床病例
Q3 Medicine Pub Date : 2025-08-01 DOI: 10.1016/j.oftal.2025.04.003
N. Castro Casal, N. Olivier Pascual, R. Arroyo Castillo
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a rare but severe genetic disorder that causes pigmentary chorioretinopathy. We present the case of a 20-year-old female patient diagnosed with LCHAD by neonatal screening with alteration of the retinal pigment epithelium (RPE) since the age of 3 years. Fundus examination showed a salt-and-pepper speckled granular pattern and diffuse peripheral chorioretinal atrophy. The patient is stable, visually asymptomatic and with good systemic control after more than 15 years of follow-up with retinography, optical coherence tomography (OCT), autofluorescence (FAF) and electroretinogram (ERG), essential for control. This case highlights the importance of early diagnosis and treatment to prevent decompensation and improve survival and progression.
长链3-羟基酰基辅酶a脱氢酶缺乏症(LCHAD)是一种罕见但严重的遗传性疾病,可引起色素脉络膜视网膜病变。我们提出的情况下,20岁的女性患者诊断为LCHAD新生儿筛查与改变视网膜色素上皮(RPE)自3岁。眼底检查显示椒盐斑状颗粒状,弥漫性周围绒毛膜视网膜萎缩。患者病情稳定,视力无症状,经过超过15年的视网膜造影,光学相干断层扫描(OCT),自体荧光(FAF)和视网膜电图(ERG)的随访,系统控制良好,这是控制的必要条件。这个病例强调了早期诊断和治疗的重要性,以防止失代偿和改善生存和进展。
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引用次数: 0
Actualización en biotecnología oftalmológica. Técnicas de identificación de biomarcadores moleculares y genéticos 眼科生物技术的更新。分子和遗传生物标志物鉴定技术
Q3 Medicine Pub Date : 2025-08-01 DOI: 10.1016/j.oftal.2025.04.001
E. Marín-Payá , L. Zanón-Moreno , I. Andrés-Blasco , J. Marín-Montiel , M.D. Pinazo-Durán , V. Zanón-Moreno
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引用次数: 0
Adaptación cultural y validación del cuestionario del Índice de Enfermedades de la Superficie Ocular (OSDI) en la población mexicana 在墨西哥人口中对眼表面疾病指数(OSDI)问卷进行文化调整和验证
Q3 Medicine Pub Date : 2025-08-01 DOI: 10.1016/j.oftal.2024.12.010
N. Kahuam-López , J.G. Serrano-Robles , G.R. Vera-Duarte , J.R. Bermeo-Escalona , C.A. Müller-Morales , A. Ramirez-Miranda , A. Navas , E.O. Graue-Hernandez

Objective

Translate, culturally adapt, and validate the Ocular Surface Disease Index (OSDI) into Spanish for the Mexican population.

Methods

To ensure fluency and comprehensibility, we employed the Crawford and INFLEZS indexes. The Content Validity Coefficient was used to assess coherence, relevance, clarity, and sufficiency. Internal consistency was evaluated using Cronbach's Alpha Coefficient.

Results

A total of 372 participants were included in the study (63.4%, women; age ranged from 17 to 86 years). According to the INFLEZS readability index, symptom-related items achieved scores of 82.56, 72.69, 85.81, 73.24, and 74.24. Lifestyle-related items obtained scores of 71.39, 76.90, 58.27, and 72.56, while in the environmental domain, scores of 83.61, 74.03, and 58.93 were recorded. Using the Crawford index, symptom scores were 3.6, 4.6, 3.5, 4.1, and 3.8, lifestyle scores were 4.7, 4.1, 5.1, and 4.6, and environmental scores were 3.7, 4.4, and 5.7. The Cronbach's alpha coefficient was 0.868. Based on the scores from the OSDI questionnaire, patients were categorized as having no dry eye (n = 129), mild dry eye (n = 99), moderate (n = 45), and severe dry eye (n = 99).

Conclusions

This study developed and validated the Mexican version of the OSDI, while assessing its reliability and internal consistency. With this tool, ophthalmologists and researchers alike will be able to assess and monitor Mexican-Spanish-speaking patients with dry eye in their routine clinical practice and future research.
目的为墨西哥人群翻译、文化适应和验证眼表疾病指数(OSDI)为西班牙语。方法采用Crawford指数和INFLEZS指数,保证词汇的流畅性和可理解性。内容效度系数用于评估连贯性、相关性、清晰度和充分性。采用Cronbach’s Alpha系数评价内部一致性。结果共纳入372名受试者,其中63.4%为女性;年龄从17岁到86岁不等)。根据INFLEZS可读性指数,症状相关项目得分分别为82.56、72.69、85.81、73.24和74.24。生活方式方面的得分分别为71.39、76.90、58.27、72.56,环境方面的得分分别为83.61、74.03、58.93。使用克劳福德指数,症状评分为3.6、4.6、3.5、4.1和3.8,生活方式评分为4.7、4.1、5.1和4.6,环境评分为3.7、4.4和5.7。Cronbach’s alpha系数为0.868。根据OSDI问卷得分,将患者分为无干眼(n = 129)、轻度干眼(n = 99)、中度干眼(n = 45)和重度干眼(n = 99)。结论本研究开发并验证了墨西哥版的OSDI,同时评估了其可靠性和内部一致性。有了这个工具,眼科医生和研究人员将能够在他们的常规临床实践和未来的研究中评估和监测墨西哥-西班牙语干眼症患者。
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引用次数: 0
Oclusión bilateral y simultánea de arterias retinianas en mujer con lupus eritematoso sistémico 患有系统性红斑狼疮的女性同时双侧视网膜动脉闭塞
Q3 Medicine Pub Date : 2025-08-01 DOI: 10.1016/j.oftal.2025.01.012
V.M. Asensio-Sánchez
Systemic lupus erythematosus (SLE) is an autoimmune disease that can affect almost every organ. This article describes a middle-aged woman, previously diagnosed with untreated SLE, who during a severe SLE flare simultaneously presented with a superior nasal artery occlusion in the right eye and a central retinal artery occlusion (CRAO) in the left eye. Severe ocular complications, such as CRAO, can occur during an acute flare of the disease in previously asymptomatic SLE.
系统性红斑狼疮(SLE)是一种可以影响几乎所有器官的自身免疫性疾病。这篇文章描述了一位中年妇女,先前诊断为未经治疗的SLE,在严重的SLE发作期间同时出现右眼鼻上动脉闭塞和左眼视网膜中央动脉闭塞(CRAO)。严重的眼部并发症,如CRAO,可发生在疾病的急性发作期间,以前无症状的SLE。
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引用次数: 0
期刊
Archivos De La Sociedad Espanola De Oftalmologia
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