Archivos de la Sociedad Espanola de Oftalmologia最新文献_第2页

A novel KMT2D gene variant c.6341del (p.Gly2114Alafs*30) and its phenotypic presentation in a Hispanic-Mexican woman with Kabuki syndrome: A case report. 一种新的KMT2D基因变异c.6341del （p.Gly2114Alafs*30）及其在西班牙裔墨西哥女性歌舞伎综合征中的表型表现：一个病例报告。

Archivos de la Sociedad Espanola de Oftalmologia Pub Date : 2025-06-23 DOI: 10.1016/j.oftale.2025.06.007

L A Garza-Garza, A P Arizpe, R Morales-Reyes, R A Villafuerte-de la Cruz, M Garza-León

{"title":"A novel KMT2D gene variant c.6341del (p.Gly2114Alafs*30) and its phenotypic presentation in a Hispanic-Mexican woman with Kabuki syndrome: A case report.","authors":"L A Garza-Garza, A P Arizpe, R Morales-Reyes, R A Villafuerte-de la Cruz, M Garza-León","doi":"10.1016/j.oftale.2025.06.007","DOIUrl":"10.1016/j.oftale.2025.06.007","url":null,"abstract":"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.","PeriodicalId":93886,"journal":{"name":"Archivos de la Sociedad Espanola de Oftalmologia","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144499816","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

Cultural adaptation and validation of the Ocular Surface Disease Index Questionnaire (OSDI) to the Mexican population. 墨西哥人口眼表疾病指数问卷（OSDI）的文化适应和验证。

Archivos de la Sociedad Espanola de Oftalmologia Pub Date : 2025-06-23 DOI: 10.1016/j.oftale.2025.06.006

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

{"title":"Cultural adaptation and validation of the Ocular Surface Disease Index Questionnaire (OSDI) to the Mexican population.","authors":"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","doi":"10.1016/j.oftale.2025.06.006","DOIUrl":"10.1016/j.oftale.2025.06.006","url":null,"abstract":"Objective: Translate, culturally adapt, and validate the Ocular Surface Disease Index 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 Ocular Surface Disease Index, 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.","PeriodicalId":93886,"journal":{"name":"Archivos de la Sociedad Espanola de Oftalmologia","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144499817","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

Diagnosis of bilateral idiopathic choroidal folds by funduscopy, OCT, and orbital ultrasound. 眼底镜、OCT及眼眶超声诊断双侧特发性脉络膜皱褶。

Archivos de la Sociedad Espanola de Oftalmologia Pub Date : 2025-06-20 DOI: 10.1016/j.oftale.2025.06.005

E Gracia-Rovira, L Manfreda Dominguez, A-M Duch Samper

引用次数: 0

Pigmentary chorioretinopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): a case report with long-term follow-up. 长链3-羟基酰基辅酶a脱氢酶缺乏症（LCHAD）所致色素性脉络膜视网膜病变1例并长期随访。

Archivos de la Sociedad Espanola de Oftalmologia Pub Date : 2025-06-16 DOI: 10.1016/j.oftale.2025.06.003

N Castro Casal, N Olivier Pascual, R Arroyo Castillo

引用次数: 0

Management of bilateral oculomotor paralysis after traumatic head injury: a case report. 外伤性颅脑损伤后双侧动眼肌麻痹1例。

Archivos de la Sociedad Espanola de Oftalmologia Pub Date : 2025-06-14 DOI: 10.1016/j.oftale.2025.06.004

P Talavero González, J García Bella, E Hernández García, E Vico Ruiz, Á Romo López, R Gómez de Liaño Sánchez

引用次数: 0

When perfection becomes a burden: The stress of cataract surgeons. 当完美成为一种负担：白内障手术的压力。

Archivos de la Sociedad Espanola de Oftalmologia Pub Date : 2025-06-09 DOI: 10.1016/j.oftale.2025.06.002

V M Asensio-Sánchez

引用次数: 0

Update on ophthalmic biotechnology: Techniques for identifying molecular and genetic biomarkers. 眼科生物技术的更新。分子和遗传生物标志物的鉴定技术。

Archivos de la Sociedad Espanola de Oftalmologia Pub Date : 2025-06-09 DOI: 10.1016/j.oftale.2025.06.001

E Marín-Payá, L Zanón-Moreno, I Andrés-Blasco, J Marín-Montiel, M D Pinazo-Durán, V Zanón-Moreno

引用次数: 0

Maculopathy due to hypotony: A diagnostic challenge 低眼压引起的黄斑病变：一个诊断挑战。

Archivos de la Sociedad Espanola de Oftalmologia Pub Date : 2025-06-01 DOI: 10.1016/j.oftale.2025.03.013

M.M. Valentín-Pastrana Aguilar, B. Sandoval Cortés, S. Durán Poveda, L. Guerrero Altares, B. García Sandoval

引用次数: 0

Surprising complete regression of a choroidal neovascular membrane with faricimab 法利昔单抗使脉络膜新生血管膜惊人地完全消退。

Archivos de la Sociedad Espanola de Oftalmologia Pub Date : 2025-06-01 DOI: 10.1016/j.oftale.2025.03.012

F. Garcia Ibor, N. Ruiz del Rio, A.M. Duch Samper

引用次数: 0

Reporting serious incidents in medical devices used in glaucoma surgery. Proposing ideas (III) 报告青光眼手术中使用的医疗器械的严重事故。提出意见（三）。

Archivos de la Sociedad Espanola de Oftalmologia Pub Date : 2025-06-01 DOI: 10.1016/j.oftale.2025.04.001

F.J. Muñoz-Negrete , A. López Vázquez , J.M. Martínez-de-la-Casa , M. Pazos , R. Giménez Gómez , J.C. Pastor

引用次数: 0