Pub Date : 2025-12-01DOI: 10.1016/j.oftale.2025.10.009
M. Martinez-de-la-Casa , M. Matilla , J. Garcia-Bella , L. Morales , B. Burgos-Blasco
Background and objective
The changes of ocular biometric parameters with age have significant clinical implications for intraocular lens (IOL) power calculation and surgical planning. However, few large-sample studies have analyzed this variability in Mediterranean populations with cataract. The objective of the present study is to analyze the biometric characteristics of a large sample with a complete age representation
Material and methods
Retrospective observational study including 5,716 eyes. Axial length (AL), corneal radii (R1 and R2), anterior chamber depth (ACD), central corneal thickness (CCT), white-to-white diameter (WTW), and lens thickness (LT) were analyzed. Linear and polynomial regression models were applied to assess their relationship with age. Adjustments for sex were performed using multiple regression.
Results
AL and ACD decreased significantly with age (p < 0.001), while LT increased exponentially from the sixth decade onwards (p < 0.001). No relevant changes were observed in CCT or WTW. Males presented greater AL, ACD, and WTW than females (p < 0.001). Variability increased in older age groups.
Conclusions
This study provides detailed and population-specific reference values for the Mediterranean population with cataract. Identifying morphometric patterns associated with ocular aging enables optimized IOL calculation and risk anticipation in elderly patients.
{"title":"Analysis of ocular biometric characteristics in a Mediterranean population","authors":"M. Martinez-de-la-Casa , M. Matilla , J. Garcia-Bella , L. Morales , B. Burgos-Blasco","doi":"10.1016/j.oftale.2025.10.009","DOIUrl":"10.1016/j.oftale.2025.10.009","url":null,"abstract":"<div><h3>Background and objective</h3><div>The changes of ocular biometric parameters with age have significant clinical implications for intraocular lens (IOL) power calculation and surgical planning. However, few large-sample studies have analyzed this variability in Mediterranean populations with cataract. The objective of the present study is to analyze the biometric characteristics of a large sample with a complete age representation</div></div><div><h3>Material and methods</h3><div>Retrospective observational study including 5,716 eyes. Axial length (AL), corneal radii (R1 and R2), anterior chamber depth (ACD), central corneal thickness (CCT), white-to-white diameter (WTW), and lens thickness (LT) were analyzed. Linear and polynomial regression models were applied to assess their relationship with age. Adjustments for sex were performed using multiple regression.</div></div><div><h3>Results</h3><div>AL and ACD decreased significantly with age (p < 0.001), while LT increased exponentially from the sixth decade onwards (p < 0.001). No relevant changes were observed in CCT or WTW. Males presented greater AL, ACD, and WTW than females (p < 0.001). Variability increased in older age groups.</div></div><div><h3>Conclusions</h3><div>This study provides detailed and population-specific reference values for the Mediterranean population with cataract. Identifying morphometric patterns associated with ocular aging enables optimized IOL calculation and risk anticipation in elderly patients.</div></div>","PeriodicalId":93886,"journal":{"name":"Archivos de la Sociedad Espanola de Oftalmologia","volume":"100 12","pages":"Pages 775-780"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145338233","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}
Pub Date : 2025-12-01DOI: 10.1016/j.oftale.2025.10.011
V. Miralles-Pechuán, J. González Martín-Moro
{"title":"Social media and ophthalmology in Spain: a new scenario for patients and professionals","authors":"V. Miralles-Pechuán, J. González Martín-Moro","doi":"10.1016/j.oftale.2025.10.011","DOIUrl":"10.1016/j.oftale.2025.10.011","url":null,"abstract":"","PeriodicalId":93886,"journal":{"name":"Archivos de la Sociedad Espanola de Oftalmologia","volume":"100 12","pages":"Pages 749-751"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145369088","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}
To determine the state of ocular surface and tear film in college students who are users of inhalants, mainly vapers.
Methods
We conducted a descriptive, observational, and cross-sectional study with 62 participants whose sociodemographic characteristics, ocular surface status, tear film and variables related to vaping were evaluated. Individuals with a higher (5–7 times per week of consumption) and lower frequency of vaping (1–4 times per week of consumption) were evaluated. Symptom documentation was standardized using the OSDI questionnaire and biomicroscopy to evaluate ocular adnexa and anterior segment structures, blinking frequency and eye protection index (EPI) were also determined.
Results
A total of 76% of participants were men with a median age of 20.37 years, and an age range between 18 and 28 years. Participants with a higher frequency of vaping exhibited blepharitis (60%) (P-value > .05), meibomian gland obstruction (65.63%) (P-value > .05), tarsal conjunctival hyperemia (52.94%) (P-value < .05), tarsal conjunctival hyperemia (52.94%) (P-value < .05), generalized bulbar hyperemia (72.73%) (P-value > .05), papillary reaction (60%) (P-value > .05), conjunctival staining (75%) (P-value > .05), limbal redness (61.54%) (P-value > .05).
A normal Schirmer I (median 31 mm/5 min), short tear breakup time (median 3.5 s in BUT) and a lower number of blinks per minute (median 10.75) were found, yet the EPI was lower (median 0.58).
Conclusions
Vaping could be associated with ocular health alterations, such as blepharitis, meibomian gland obstruction, conjunctival hyperemia, conjunctival staining and altered tear quality. Follow-up studies are recommended to establish causal relationships.
{"title":"Ocular surface and tear film in university students who use inhalant substances, mainly vapers","authors":"A.B. López Álvarez, D.A. Ulloa Delgado, D.C. Palencia Flórez, M.C. Morón Barreto","doi":"10.1016/j.oftale.2025.09.003","DOIUrl":"10.1016/j.oftale.2025.09.003","url":null,"abstract":"<div><h3>Objective</h3><div>To determine the state of ocular surface and tear film in college students who are users of inhalants, mainly vapers.</div></div><div><h3>Methods</h3><div>We conducted a descriptive, observational, and cross-sectional study with 62 participants whose sociodemographic characteristics, ocular surface status, tear film and variables related to vaping were evaluated. Individuals with a higher (5–7 times per week of consumption) and lower frequency of vaping (1–4 times per week of consumption) were evaluated. Symptom documentation was standardized using the OSDI questionnaire and biomicroscopy to evaluate ocular adnexa and anterior segment structures, blinking frequency and eye protection index (EPI) were also determined.</div></div><div><h3>Results</h3><div>A total of 76% of participants were men with a median age of 20.37 years, and an age range between 18 and 28 years. Participants with a higher frequency of vaping exhibited blepharitis (60%) (<em>P</em>-value > .05), meibomian gland obstruction (65.63%) (<em>P</em>-value > .05), tarsal conjunctival hyperemia (52.94%) (<em>P</em>-value < .05), tarsal conjunctival hyperemia (52.94%) (<em>P</em>-value < .05), generalized bulbar hyperemia (72.73%) (<em>P</em>-value > .05), papillary reaction (60%) (<em>P</em>-value > .05), conjunctival staining (75%) (<em>P</em>-value > .05), limbal redness (61.54%) (<em>P</em>-value > .05).</div><div>A normal Schirmer I (median 31 mm/5 min), short tear breakup time (median 3.5 s in BUT) and a lower number of blinks per minute (median 10.75) were found, yet the EPI was lower (median 0.58).</div></div><div><h3>Conclusions</h3><div>Vaping could be associated with ocular health alterations, such as blepharitis, meibomian gland obstruction, conjunctival hyperemia, conjunctival staining and altered tear quality. Follow-up studies are recommended to establish causal relationships.</div></div>","PeriodicalId":93886,"journal":{"name":"Archivos de la Sociedad Espanola de Oftalmologia","volume":"100 11","pages":"Pages 666-673"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145016996","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}
Pub Date : 2025-11-01DOI: 10.1016/j.oftale.2025.09.005
J. Lorenzo-Castro , A.D. Alarcón-García , A. Valverde-Megías , J. Montero-Hernández , S. Copete , P. Fernandez-Avellaneda , M.Á. Zapata , O. Ruiz-Moreno , L. Arias-Barquet , J.I. Fernández-Vigo
Background and objectives
To assess the perception and management of central serous chorioretinopathy (CSCR) in Spain through a survey aimed at retinal specialists.
Material and methods
The working group designed an original online survey, including 42 questions categorized into 4 sections: clinical perception, diagnosis, clinical management, and prognosis.
Results
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 <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.
Conclusions
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.
{"title":"National study on the management of central serous chorioretinopathy","authors":"J. Lorenzo-Castro , A.D. Alarcón-García , A. Valverde-Megías , J. Montero-Hernández , S. Copete , P. Fernandez-Avellaneda , M.Á. Zapata , O. Ruiz-Moreno , L. Arias-Barquet , J.I. Fernández-Vigo","doi":"10.1016/j.oftale.2025.09.005","DOIUrl":"10.1016/j.oftale.2025.09.005","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 <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":93886,"journal":{"name":"Archivos de la Sociedad Espanola de Oftalmologia","volume":"100 11","pages":"Pages 674-682"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145126795","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}
Pub Date : 2025-11-01DOI: 10.1016/j.oftale.2025.09.012
A. Lo Cascio, A. Bures Jelstrup
This is the case of a necrotizing retinitis associated with occlusive retinal vasculitis due to cytomegalovirus (CMV) in an immunocompetent patient with complex diagnosis and management, but with resolution after the start of appropriate antiviral therapy, with subsequent control of intraocular inflammation and visual recovery. CMV was confirmed as the pathogen using the polymerase chain reaction (PCR) assay of aqueous humor samples.
{"title":"Cytomegalovirus necrotizing retinitis in an immunocompetent patient: A case report","authors":"A. Lo Cascio, A. Bures Jelstrup","doi":"10.1016/j.oftale.2025.09.012","DOIUrl":"10.1016/j.oftale.2025.09.012","url":null,"abstract":"<div><div>This is the case of a necrotizing retinitis associated with occlusive retinal vasculitis due to cytomegalovirus (CMV) in an immunocompetent patient with complex diagnosis and management, but with resolution after the start of appropriate antiviral therapy, with subsequent control of intraocular inflammation and visual recovery. CMV was confirmed as the pathogen using the polymerase chain reaction (PCR) assay of aqueous humor samples.</div></div>","PeriodicalId":93886,"journal":{"name":"Archivos de la Sociedad Espanola de Oftalmologia","volume":"100 11","pages":"Pages 719-722"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145194058","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}
Pub Date : 2025-11-01DOI: 10.1016/j.oftale.2025.08.007
J. Benitez-del-Castillo , M. Villalba-Conde , V. Amaya-López , M.D. Pinazo-Duran
Introduction and objectives
To assess prevalence of classic clinical signs of Pigment Dispersion Syndrome (PDS) in PDS and Pigmentary Glaucoma (PG) in caucasian patients from Southern Spain.
Materials and methods
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).
Results
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 (p = 0.47). Prevalence of TMP is 87.5% in PDS and 95.8% in PG (p = 0.26). Prevalence of ITD is 16.7% in PDS and 41.7% in PG (p = 0.02). OR of those presenting PG is 3.57 for ITD (95% CI 1.17 to 10.85) (p = 0.02).
Conclusions
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%).
{"title":"Pigmentary dispersion syndrome and pigmentary glaucoma: Diagnostic relevance of the classical triad in a Mediterranean population","authors":"J. Benitez-del-Castillo , M. Villalba-Conde , V. Amaya-López , M.D. Pinazo-Duran","doi":"10.1016/j.oftale.2025.08.007","DOIUrl":"10.1016/j.oftale.2025.08.007","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 (p = 0.47). Prevalence of TMP is 87.5% in PDS and 95.8% in PG (p = 0.26). Prevalence of ITD is 16.7% in PDS and 41.7% in PG (p = 0.02). OR of those presenting PG is 3.57 for ITD (95% CI 1.17 to 10.85) (p = 0.02).</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":93886,"journal":{"name":"Archivos de la Sociedad Espanola de Oftalmologia","volume":"100 11","pages":"Pages 683-688"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144982330","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}
Pub Date : 2025-11-01DOI: 10.1016/j.oftale.2025.10.010
E. García-Esquinas , M.J. Sánchez , J.J. González-López , F. Rodríguez-Artalejo , B. Pérez-Gómez , on behalf of all AMBISiON-IMPaCT project investigators
{"title":"AMBISiON-IMPaCT: A project to enrich the IMPaCT cohort with eye health measures for precision medicine","authors":"E. García-Esquinas , M.J. Sánchez , J.J. González-López , F. Rodríguez-Artalejo , B. Pérez-Gómez , on behalf of all AMBISiON-IMPaCT project investigators","doi":"10.1016/j.oftale.2025.10.010","DOIUrl":"10.1016/j.oftale.2025.10.010","url":null,"abstract":"","PeriodicalId":93886,"journal":{"name":"Archivos de la Sociedad Espanola de Oftalmologia","volume":"100 11","pages":"Pages 655-657"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145338222","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}
Pub Date : 2025-11-01DOI: 10.1016/j.oftale.2025.09.007
E. Gracia-Rovira, A. Díaz Barrón, A.M. Duch Samper
{"title":"Relevance of ‘popcorn’ discovery in retinopathy of premature","authors":"E. Gracia-Rovira, A. Díaz Barrón, A.M. Duch Samper","doi":"10.1016/j.oftale.2025.09.007","DOIUrl":"10.1016/j.oftale.2025.09.007","url":null,"abstract":"","PeriodicalId":93886,"journal":{"name":"Archivos de la Sociedad Espanola de Oftalmologia","volume":"100 11","pages":"Pages 746-747"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145126815","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}
Pub Date : 2025-11-01DOI: 10.1016/j.oftale.2025.09.011
P. Pérez-García , J.A. Gegúndez-Fernández , M. Ariño-Gutiérrez , M. Molero-Senosiaín , B. Burgos-Blasco , D. Díaz-Valle
This work aims to present a novel technique for obtaining grafts for Descemet Membrane Endothelial Keratoplasty (DMEK) safely and efficiently, thanks to its fast learning curve and reduced risk of graft tears. The technique involves the peripheral dissection of the endothelium starting with a superficial incision made using a 30-Gauge needle, 1 mm inside Schwalbe's line across 360º of the corneal periphery. Trypan Blue is then applied to visualize the dissection boundary, and a DMEK Sinskey hook is used to lift 1 mm of the peripheral graft along the entire circumference. The technique continues with the separation of Descemet's membrane from the stroma, as is commonly performed. This technique reduces costs by employing a standard needle and achieves low failure rates compared to other techniques.
{"title":"30-Gauge needle Descemet membrane endothelial keratoplasty graft obtention: A novel, safer and cheap technique","authors":"P. Pérez-García , J.A. Gegúndez-Fernández , M. Ariño-Gutiérrez , M. Molero-Senosiaín , B. Burgos-Blasco , D. Díaz-Valle","doi":"10.1016/j.oftale.2025.09.011","DOIUrl":"10.1016/j.oftale.2025.09.011","url":null,"abstract":"<div><div>This work aims to present a novel technique for obtaining grafts for Descemet Membrane Endothelial Keratoplasty (DMEK) safely and efficiently, thanks to its fast learning curve and reduced risk of graft tears. The technique involves the peripheral dissection of the endothelium starting with a superficial incision made using a 30-Gauge needle, 1 mm inside Schwalbe's line across 360º of the corneal periphery. Trypan Blue is then applied to visualize the dissection boundary, and a DMEK Sinskey hook is used to lift 1 mm of the peripheral graft along the entire circumference. The technique continues with the separation of Descemet's membrane from the stroma, as is commonly performed. This technique reduces costs by employing a standard needle and achieves low failure rates compared to other techniques.</div></div>","PeriodicalId":93886,"journal":{"name":"Archivos de la Sociedad Espanola de Oftalmologia","volume":"100 11","pages":"Pages 742-745"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193999","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}
Pub Date : 2025-11-01DOI: 10.1016/j.oftale.2025.10.004
Mark Rabinovich , Kristof Vandekerckhove , Adrian Gericke
We document the clinical ocular presentation of methylmalonic acidemia (MMA) with a mutase defect, specifically the MUT N219Y variant, in a 27-year-old female who presented with sudden bilateral visual acuity deterioration. The ophthalmologic workup included visual acuity testing, biomicroscopic and fundus examinations, macular spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence, multicolor imaging, retinal nerve fiber layer analysis, kinetic and static visual field testing, and head magnetic resonance imaging. The patient demonstrated bilateral visual acuity loss, more severe in the left eye. SD-OCT of the macula and optic nerve appeared normal, yet static visual field testing showed elevated central threshold values bilaterally, and kinetic testing revealed bilateral constriction. MRI of the head revealed bilateral focal signal abnormalities of the optic nerves, with left-sided predominance. This case represents the first detailed ophthalmologic description in a patient with MMA carrying the MUT N219Y variant.
{"title":"Ophthalmologic findings in a patient with methylmalonic acidemia and the N219Y mutase mutation","authors":"Mark Rabinovich , Kristof Vandekerckhove , Adrian Gericke","doi":"10.1016/j.oftale.2025.10.004","DOIUrl":"10.1016/j.oftale.2025.10.004","url":null,"abstract":"<div><div>We document the clinical ocular presentation of methylmalonic acidemia (MMA) with a mutase defect, specifically the MUT N219Y variant, in a 27-year-old female who presented with sudden bilateral visual acuity deterioration. The ophthalmologic workup included visual acuity testing, biomicroscopic and fundus examinations, macular spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence, multicolor imaging, retinal nerve fiber layer analysis, kinetic and static visual field testing, and head magnetic resonance imaging. The patient demonstrated bilateral visual acuity loss, more severe in the left eye. SD-OCT of the macula and optic nerve appeared normal, yet static visual field testing showed elevated central threshold values bilaterally, and kinetic testing revealed bilateral constriction. MRI of the head revealed bilateral focal signal abnormalities of the optic nerves, with left-sided predominance. This case represents the first detailed ophthalmologic description in a patient with MMA carrying the MUT N219Y variant.</div></div>","PeriodicalId":93886,"journal":{"name":"Archivos de la Sociedad Espanola de Oftalmologia","volume":"100 11","pages":"Pages 737-741"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145310297","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}
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