Archivos De La Sociedad Espanola De Oftalmologia最新文献

{"title":"Análisis de los factores asociados a la formación de cataratas posvitrectomía en pacientes fáquicos sometidos a vitrectomía por desprendimiento de retina regmatógeno","authors":"A. Gibelalde,&nbsp;S. Pinar-Sueiro,&nbsp;I. Martínez-Soroa","doi":"10.1016/j.oftal.2025.07.009","DOIUrl":"10.1016/j.oftal.2025.07.009","url":null,"abstract":"<div><h3>Introductions and objetives</h3><div>This study assesses risk factors for developing cataracts after vitrectomy with tamponade for rhegmatogenous retinal detachment (RRD) in phakic patients and explores the potencial causal relationship between RRD surgery and the development of cataracts.</div></div><div><h3>Materials and methods</h3><div>This was a retrospective study analysing the medical records of patients undergoing RRD surgery between 2012 and 2020 (9<!--> <!-->years) at Donostia University Hospital (HUD). We collected data on the date of phacoemulsification surgery after vitrectomy surgery for RRD, as well as the type of vitrectomy and patient characteristics.</div></div><div><h3>Results</h3><div>Patients who underwent cataract surgery were on average older (mean age of 60.79<!--> <!-->years old<!--> <!-->±<!--> <!-->9.49) than those who did not undergo this type of surgery during follow-up (52.97<!--> <!-->years old<!--> <!-->±<!--> <!-->13.59), the difference being statistically significant (<em>P</em> <!-->&lt;<!--> <!-->.0001). Classifying patients by age at the date of the vitrectomy (≤<!--> <!-->50 years or &gt;<!--> <!-->50<!--> <!-->years of age), we found between-group differences in phacoemulsification rates after vitrectomy in the follow-up period, cataract surgery being performed in a third of the younger group and three-quarters of the older group (<em>P</em> <!-->&lt;<!--> <!-->.0001).</div></div><div><h3>Conclusions</h3><div>Patients with phakic RRD under 50<!--> <!-->years old have a lower risk of cataract development after vitrectomy with tamponade than those over 50<!--> <!-->years old. The use of long-acting tamponade gases such as C3F8 and silicone oil in phakic patients seems to increase the likelihood of needing early cataract surgery after RRD surgery with PPV.</div></div>","PeriodicalId":8348,"journal":{"name":"Archivos De La Sociedad Espanola De Oftalmologia","volume":"100 11","pages":"Pages 689-695"},"PeriodicalIF":0.0,"publicationDate":"2025-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145374299","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}

{"title":"Síndrome de dispersión pigmentaria y glaucoma pigmentario: relevancia diagnóstica de la tríada clásica en una población mediterránea","authors":"J. Benitez-del-Castillo ,&nbsp;M. Villalba-Conde ,&nbsp;V. Amaya-López ,&nbsp;M.D. Pinazo-Duran","doi":"10.1016/j.oftal.2025.07.008","DOIUrl":"10.1016/j.oftal.2025.07.008","url":null,"abstract":"<div><h3>Introduction and objectives</h3><div>To assess prevalence of classic clinical signs of pigment dispersion syndrome (PDS) in PDS and pigmentary glaucoma (PG) in Caucasian patients from Southern Spain.</div></div><div><h3>Materials and methods</h3><div>Cross-sectional observational case-series study evaluating the prevalence of characteristic clinical signs of PDS: Krukenberg spindle (KS), trabecular meshwork pigmentation (TMP) and iris transillumination defects (ITD). Differences between PDS and PG patients are evaluated and the probability of association with PG of clinical signs with statistically significant differences is also calculated (Odds Ratio [OR] in logistic regression analysis).</div></div><div><h3>Results</h3><div>144 PDS/PG patients. Prevalence of KS, TMP and ITD is 91%, 88.9% and 24.3%. 48 right eyes (66.7%) were PDS and 24 right eyes (33.3%) were considered PG patients. Prevalence of KS is 95.8% in PDS and 91.7% in PG (<em>P</em> <!-->=<!--> <!-->.47). Prevalence of TMP is 87.5% in PDS and 95.8% in PG (<em>P</em> <!-->=<!--> <!-->.26). Prevalence of ITD is 16.7% in PDS and 41.7% in PG (<em>P</em> <!-->=<!--> <!-->.02). OR of those presenting PG is 3.57 for ITD (95%<!--> <!-->CI: 1.17 to 10.85) (<em>P</em> <!-->=<!--> <!-->.02).</div></div><div><h3>Conclusions</h3><div>There are no major differences in the prevalence of KS and TMP in our population of patients with PDS/PG compared to published data in the Caucasian population (91% vs 95% for KS and 88.9% vs 86% for TMP) but there are differences in the prevalence of ITD (24.3% vs 86%).</div></div>","PeriodicalId":8348,"journal":{"name":"Archivos De La Sociedad Espanola De Oftalmologia","volume":"100 11","pages":"Pages 683-688"},"PeriodicalIF":0.0,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145374298","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}

{"title":"Estudio nacional del manejo de la coriorretinopatía serosa central","authors":"J. Lorenzo-Castro ,&nbsp;A.D. Alarcón-García ,&nbsp;A. Valverde-Megías ,&nbsp;J. Montero-Hernández ,&nbsp;S. Copete ,&nbsp;P. Fernandez-Avellaneda ,&nbsp;M.Á. Zapata ,&nbsp;O. Ruiz-Moreno ,&nbsp;L. Arias-Barquet ,&nbsp;J.I. Fernández-Vigo","doi":"10.1016/j.oftal.2025.07.002","DOIUrl":"10.1016/j.oftal.2025.07.002","url":null,"abstract":"<div><h3>Background and objectives</h3><div>To assess the perception and management of central serous chorioretinopathy (CSCR) in Spain through a survey aimed at retinal specialists.</div></div><div><h3>Material and methods</h3><div>The working group designed an original online survey, including 42 questions categorized into 4 sections: clinical perception, diagnosis, clinical management, and prognosis.</div></div><div><h3>Results</h3><div>A total of 114 ophthalmologists completed the survey. The mean age was 46 years (range, 26–72), 54.5% were men, and the mean post-residency experience was 17.5 years. CSCR was perceived as a growing condition by 80% of participants. While 75% believed acute CSCR tends to resolve spontaneously, 63% estimated chronicity in &lt;<!--> <!-->25% of cases; however, if chronicity occurs, 77% considered spontaneous resolution unlikely without treatment. Besides OCT, OCT angiography was the most used diagnostic imaging modalitu (72%), followed by fundus autofluorescence (65%). Systemic work-up was never considered by 30%, while 62% would only consider it in the presence of bilateral or multifocal cases, with cortisol being the most frequently investigated parameter. Observation is preferred in acute CSCR, while photodynamic therapy is favored in chronic forms. Focal laser and anti-VEGF agents are preferred for extrafoveal leaks and neovascular membranes, respectively. While 80% expect anatomical improvement with treatment, there is consensus on its limited functional benefits.</div></div><div><h3>Conclusions</h3><div>This survey highlights that CSCR is perceived as an increasingly prevalent disease with high recurrence and potential for chronicity. It also reveals preferences and variability in its management among specialists.</div></div>","PeriodicalId":8348,"journal":{"name":"Archivos De La Sociedad Espanola De Oftalmologia","volume":"100 11","pages":"Pages 674-682"},"PeriodicalIF":0.0,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145374304","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}

{"title":"¿Debe considerarse el síndrome XYY en el diagnóstico diferencial de la miopía sindrómica? A propósito de un caso","authors":"R. Morales-Reyes ,&nbsp;L.A. Garza-Garza ,&nbsp;R.A. Villafuerte-de la Cruz ,&nbsp;M. Garza-Leon","doi":"10.1016/j.oftal.2025.04.012","DOIUrl":"10.1016/j.oftal.2025.04.012","url":null,"abstract":"<div><h3>Introduction and objectives</h3><div>XYY syndrome is relatively common and misdiagnosed. In addition high myopia appears to be more frequent in this syndrome than in the general population. Therefore, the objective of the present report is to emphasize the association of XYY syndrome and high myopia.</div></div><div><h3>Materials and methods</h3><div>Case report of a single patient.</div></div><div><h3>Results</h3><div>An 8-year-old male patient with a history of XYY syndrome was examined. Physical examination revealed tall stature, low-set auricular pavilion implantation, mid-face hypoplasia, horizontal palpebral fissures. Ophthalmological evaluation showed early-onset high myopia in both eyes and a complete nuclear cataract and chronic retinal detachment in the right eye.</div></div><div><h3>Discussion</h3><div>Patients with XYY syndrome appear to exhibit a high prevalence of myopia. Although the pathophysiology of myopia in patients with XYY syndrome is not yet fully understood, it should be considered as a differential diagnosis for syndromic myopia.</div></div>","PeriodicalId":8348,"journal":{"name":"Archivos De La Sociedad Espanola De Oftalmologia","volume":"100 11","pages":"Pages 732-736"},"PeriodicalIF":0.0,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145374648","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}

{"title":"Síndrome de Vogt-Koyanagi-Harada en fase aguda resistente a la terapia con corticosteroides en una paciente adulta","authors":"Z.E. Kurt,&nbsp;M.A. Argin","doi":"10.1016/j.oftal.2025.06.014","DOIUrl":"10.1016/j.oftal.2025.06.014","url":null,"abstract":"<div><div>Vogt-Koyanagi-Harada (VKH) syndrome is a rare inflammatory disease that affects more than one system, including ophthalmological, auditory, cutaneous, and neurological systems. VKH syndrome is mostly characterized by panuveitis with serous retinal detachment, headache, hearing loss, vitiligo, and poliosis. Early diagnosis and proper management are crucial to prevent irreversible visual loss and other complications. We present a case report of VKH syndrome in a 29-year-old female patient. Initiation of corticosteroid therapy led to gradual regression of her symptoms. However, after cessation of corticosteroid therapy, the patient's visual acuity decreased, and the symptoms reappeared. Consequently, combination therapy with corticosteroid, azathioprine, and cyclosporine controlled the disease and stabilized clinical findings. This article highlights that early diagnosis and treatment of VKH syndrome with corticosteroid along with azathioprine and cyclosporine in the acute phase may improve a patient's quality of life and reduce the severity of the disease.</div></div>","PeriodicalId":8348,"journal":{"name":"Archivos De La Sociedad Espanola De Oftalmologia","volume":"100 11","pages":"Pages 723-727"},"PeriodicalIF":0.0,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145374646","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}

{"title":"Desprendimiento de retina asociado a agujero macular en nanoftalmos y alta hipermetropía","authors":"A.L. Quiroz,&nbsp;P. Armendariz,&nbsp;J.D. Grigera","doi":"10.1016/j.oftal.2025.04.010","DOIUrl":"10.1016/j.oftal.2025.04.010","url":null,"abstract":"<div><div>We report the case of a 74-year-old woman with high hyperopia and nanophthalmos who presented with a progressive central scotoma in her left eye. Best-corrected visual acuity was limited to hand motion, and examination revealed a full-thickness macular hole associated with retinal detachment. Pars plana vitrectomy with the inverted internal limiting membrane (ILM) flap technique and 20% sulfur hexafluoride (SF6) tamponade was performed, but hole closure was not achieved. A second surgery including phacovitrectomy, retinal massage and ILM flap repositioning resulted in successful anatomical closure and visual improvement. This case highlights the value of adjunctive techniques such as retinal massage and accurate ILM flap repositioning to promote closure in complex and uncommon scenarios.</div></div>","PeriodicalId":8348,"journal":{"name":"Archivos De La Sociedad Espanola De Oftalmologia","volume":"100 11","pages":"Pages 728-731"},"PeriodicalIF":0.0,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145374647","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}

{"title":"Características diferenciales en miopía alta con y sin glaucoma","authors":"P. Robles Amor ,&nbsp;A. Cabo Sánchez ,&nbsp;A. Antón López ,&nbsp;S. Duch Tuesta ,&nbsp;J. Moreno Montañés ,&nbsp;F.J. Muñoz Negrete ,&nbsp;I. Rodríguez Uña ,&nbsp;F. Sáenz Francés ,&nbsp;J. García Feijoó ,&nbsp;J.M. Martínez de la Casa","doi":"10.1016/j.oftal.2025.04.009","DOIUrl":"10.1016/j.oftal.2025.04.009","url":null,"abstract":"<div><h3>Introduction and objectives</h3><div>To identify the differences in ocular and epidemiological parameters between highly myopic subjects with and without glaucoma.</div></div><div><h3>Material and methods</h3><div>A total of 386 patients diagnosed with high myopia were recruited in hospital consultations from October 2022 through October 2023. High myopia was defined as an axial length ≥<!--> <!-->26<!--> <!-->mm and/or a refractive error ≥<!--> <!-->−6<!--> <!-->diopters of sphere. We perform a complete ophthalmological examination, incorporating optical biometry to measure axial length and an objective refraction to quantify refractive error.</div></div><div><h3>Results</h3><div>386 high myopic patients without (group<!--> <!-->I: n<!--> <!-->=<!--> <!-->138) and with glaucoma (group<!--> <!-->II: n<!--> <!-->=<!--> <!-->248) who attended for consultation were included in the study. The distribution by sex was similar in both groups.</div><div>The mean age was slightly higher in the glaucoma group than in the subjects without glaucoma, without finding statistically significant differences (63.8 vs 62.4 years; <em>P</em> <!-->=<!--> <!-->.349).</div><div>Patients with glaucoma had a higher mean refractive error: −15.52<!--> <!-->diopters vs −12.75<!--> <!-->diopters finding statistical significance (<em>P</em> <!-->=<!--> <!-->.002). The mean axial length was significantly greater in patients with glaucoma: 30.21 vs 28.93<!--> <!-->mm (<em>P</em> <!-->&lt;<!--> <!-->.001).</div></div><div><h3>Conclusions</h3><div>Our results firstly suggest that increased axial length and greater refractive error are directly related to the prevalence of glaucoma in patients with high myopia. The non-association between a higher prevalence of glaucoma and older age in these patients is of special interest. These findings underscore the importance of increasing awareness of the increased prevalence of glaucoma in people with high myopia.</div></div>","PeriodicalId":8348,"journal":{"name":"Archivos De La Sociedad Espanola De Oftalmologia","volume":"100 9","pages":"Pages 514-520"},"PeriodicalIF":0.0,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144913848","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}

{"title":"Listado de Verificación de Seguridad Quirúrgica en oftalmología: propuesta de un hospital de tercer nivel","authors":"N. Lorenzana-Blanco,&nbsp;A. Escudero-Villanueva,&nbsp;N. Alejandre-Alba,&nbsp;I. Jiménez-Alfaro Morote","doi":"10.1016/j.oftal.2025.03.001","DOIUrl":"10.1016/j.oftal.2025.03.001","url":null,"abstract":"<div><div>Adverse events due to unsafe healthcare practices constitute a serious global problem. The World Health Organization has recognized healthcare insecurity as a public health issue and has undertaken various initiatives to safeguard patient safety. The Surgical Safety Checklist is one of the tools implemented that has proven to be most effective in reducing morbidity and mortality associated with surgeries. Its impact is tied to implementation policies. Although the Surgical Safety Checklist is universal, the World Health Organization has encouraged adaptations for different specialties. The purpose of our work is to present the Surgical Safety Checklist used in our hospital for major and minor ophthalmic surgery. Regarding cataract surgery, it is noteworthy to consider special ocular conditions and the correct choice of intraocular lens.</div></div>","PeriodicalId":8348,"journal":{"name":"Archivos De La Sociedad Espanola De Oftalmologia","volume":"100 8","pages":"Pages 466-472"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144757643","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}

{"title":"Clasificación del estafiloma posterior en miopía patológica mediante 3 D WIDE SCAN REVIEW en imágenes del fondo de ojo","authors":"J.D. Arias Aristizábal ,&nbsp;C.M. Cordoba-Ortega ,&nbsp;M.A. Gómez Velasco ,&nbsp;J.M. Barahona Campos","doi":"10.1016/j.oftal.2025.04.008","DOIUrl":"10.1016/j.oftal.2025.04.008","url":null,"abstract":"<div><h3>Introduction and objectives</h3><div>Pathological myopia is associated with structural changes, including posterior staphylomas, which can be categorized based on their morphology. This study aims to classify posterior staphylomas in patients with pathological myopia using the 3<!--> <!-->D WIDE SCAN REVIEW Swept-Source optical coherence tomography (OCT) platform and compare the findings with the Ohno-Matsui classification.</div></div><div><h3>Patients and methods</h3><div>We conducted a retrospective cross-sectional cohort study, including 59 eyes from 31 patients diagnosed with high myopia (axial length ≥<!--> <!-->26<!--> <!-->mm and/or spherical equivalent ≥<!--> <!-->−6.00 diopters) and pathological myopia, defined as equal to or greater than diffuse chorioretinal atrophy or the presence of a posterior staphyloma, according to the META-PM study group. Posterior staphylomas were categorized based on fundus depression shape and appearance using 3<!--> <!-->D WIDE SCAN REVIEW analysis and compared using the Ohno-Matsui 2014 classification. Additionally, myopic maculopathy was assessed using the Atrophic-Tractional-Neovascular (ATN) classification, explicitly evaluating atrophic (A), tractional (T), and neovascular (N) components. Image acquisition was performed using the Topcon Triton Swept-Source OCT system, and images were processed and analyzed with the 3<!--> <!-->D WIDE SCAN REVIEW platform.</div></div><div><h3>Results</h3><div>The patients’ mean age was 49.56<!--> <!-->years (SD: ±<!--> <!-->18.50; 71.05% women). The distribution of posterior staphylomas varied among the study population. Type<!--> <!-->I (wide macular) was the most prevalent, observed in 22.0% of cases, followed by Type<!--> <!-->II (narrow macular) at 10.2%, Type<!--> <!-->III (peripapillary) at 8.5%, Type<!--> <!-->IV (nasal) at 3.4%, and Type<!--> <!-->V (inferior) at 8.5%. This classification highlights the predominance of macular involvement in pathological myopia, with nasal and inferior staphylomas being less common. Regarding myopic maculopathy, A1 was the most common atrophic component (43.5%), T0 was predominant (78.3%), and N0 was the most common neovascular category (83%).</div></div><div><h3>Conclusions</h3><div>The 3<!--> <!-->D WIDE SCAN REVIEW Swept-Source OCT platform provides a high-resolution, non-invasive method for detailed visualization and classification of posterior staphylomas. By using Topcon Triton SS-OCT for image acquisition and 3<!--> <!-->D WIDE SCAN REVIEW software for analysis this study demonstrates a clinically viable alternative to traditional imaging modalities for evaluating posterior staphylomas in pathological myopia.</div></div>","PeriodicalId":8348,"journal":{"name":"Archivos De La Sociedad Espanola De Oftalmologia","volume":"100 8","pages":"Pages 458-465"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144757642","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}

{"title":"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","authors":"L.A. Garza-Garza ,&nbsp;A.P. Arizpe ,&nbsp;R. Morales-Reyes ,&nbsp;R.A. Villafuerte-de la Cruz ,&nbsp;M. Garza-León","doi":"10.1016/j.oftal.2025.04.007","DOIUrl":"10.1016/j.oftal.2025.04.007","url":null,"abstract":"<div><h3>Introduction and objectives</h3><div>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.</div></div><div><h3>Materials and methods</h3><div>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.</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Conclusions</h3><div>The present paper reports on a novel pathogenic variant in Kabuki syndrome. The multimodal imaging evaluation of the ophthalmic phenotype was within normal limits.</div></div>","PeriodicalId":8348,"journal":{"name":"Archivos De La Sociedad Espanola De Oftalmologia","volume":"100 8","pages":"Pages 452-457"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144757641","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}