Journal Francais D Ophtalmologie最新文献

A large iris inclusion cyst following phacoemulsification 超声乳化术后大虹膜包涵囊肿

IF 1.2 4区医学

Journal Francais D Ophtalmologie Pub Date : 2025-04-24 DOI: 10.1016/j.jfo.2025.104529

T. Abdellaoui , A. Bouzidi , S. Iferkhass , A. El Ouafi

引用次数: 0

Intravitreal injection of faricimab to treat macular and retinovascular diseases in Nigerians: Early real-world experience 法昔单抗玻璃体内注射治疗尼日利亚黄斑和视网膜血管疾病：早期现实世界经验

IF 1.2 4区医学

Journal Francais D Ophtalmologie Pub Date : 2025-04-14 DOI: 10.1016/j.jfo.2025.104516

O.N. Okonkwo , A.O. Hassan , I. Ajiboye , O.Z. Onunwa , I. Oyekunle

{"title":"Intravitreal injection of faricimab to treat macular and retinovascular diseases in Nigerians: Early real-world experience","authors":"O.N. Okonkwo , A.O. Hassan , I. Ajiboye , O.Z. Onunwa , I. Oyekunle","doi":"10.1016/j.jfo.2025.104516","DOIUrl":"10.1016/j.jfo.2025.104516","url":null,"abstract":"<div><h3>Introduction</h3><div>Faricimab is a novel bispecific antibody for treating retinovascular diseases. Nigerians were not included in the pivotal approval studies; therefore, its performance in Nigerians is unknown.</div></div><div><h3>Purpose</h3><div>To report indications, outcomes and safety of intravitreal faricimab (IVF) in Nigerians.</div></div><div><h3>Study setting</h3><div>Single tertiary care ophthalmology hospital.</div></div><div><h3>Material and Methods</h3><div>Retrospective review of eyes documented to have received at least one IVF injection from January to August 2024, with no exclusions. Information retrieved from case records includes patient demographics, indication, previous intravitreal injections, number of IVF injections, visual outcome and central subfield thickness (CST), before and after IVF injection.</div></div><div><h3>Results</h3><div>A total of 77 IVF injections were administered to 39 eyes of 31 patients; mean age 65.69 years (±10), ranging from 48 to 80 years. Fifteen were male (17 eyes), and 16 were female (22 eyes). The most common indications for treatment were neovascular age-related macular degeneration (nAMD) in 13 eyes (33%) and diabetic macular edema (DME) in 10 eyes (25.6%). For all eyes, visual acuity improved from a baseline LogMAR score of 0.90 (±0.57) to 0.88 (±0.64) after the first injection, and 0.74 (±0.61) after the final injection. Central subfield thickness (CST) decreased from 403.80 microns (±208.61) to 303 microns (±191.07). In treatment-naïve eyes (<em>n</em>    =0.006), and CST decreased from 433.94 microns (±258.58) to 310.45 microns (±206.48) (<em>P</em>  =20), visual acuity improved from 0.91 (±0.60) to 0.81 (±0.74) (<em>P</em>    =0.004). There were no adverse reactions reported following the injections.</div></div><div><h3>Conclusion</h3><div>IVF was safe and effective for treating nAMD, DME and other retinovascular diseases in Nigerians in this pilot study. Outcomes of large sample size studies are expected.</div></div><div><h3>Introduction</h3><div>Le faricimab est un nouvel anticorps bispécifique, pour le traitement des maladies rétinovasculaires. Les Nigérians n’ont pas été inclus dans les études pivots d’approbation, par conséquent, ses performances chez les Nigérians sont inconnues.</div></div><div><h3>Objectif</h3><div>Rapporter les indications, les résultats et la sécurité du faricimab intravitréen (FIV) chez les Nigérians.</div></div><div><h3>Contexte de l’étude</h3><div>H","PeriodicalId":14777,"journal":{"name":"Journal Francais D Ophtalmologie","volume":"48 6","pages":"Article 104516"},"PeriodicalIF":1.2,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143825665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Reproducibility and reliability of intraocular pressure self-measurement with iCare® HOME2 compared to Goldmann applanation tonometry 与Goldmann压平眼压计相比，iCare®HOME2眼压自行测量的再现性和可靠性

IF 1.2 4区医学

Journal Francais D Ophtalmologie Pub Date : 2025-04-14 DOI: 10.1016/j.jfo.2025.104517

J.-B. Amatu , P. Bastelica , J. Buffault , C. Baudouin , A. Labbé

{"title":"Reproducibility and reliability of intraocular pressure self-measurement with iCare® HOME2 compared to Goldmann applanation tonometry","authors":"J.-B. Amatu , P. Bastelica , J. Buffault , C. Baudouin , A. Labbé","doi":"10.1016/j.jfo.2025.104517","DOIUrl":"10.1016/j.jfo.2025.104517","url":null,"abstract":"<div><h3>Purpose</h3><div>To evaluate the reproducibility and reliability of intraocular pressure (IOP) self-measurements with the iCare® HOME2 tonometer (ICH2, model TA023, Icare Oy, Vanda, Finland) in patients with ocular hypertension or glaucoma.</div></div><div><h3>Patients and methods</h3><div>Fifty-two eyes of 29 patients were included. IOP was assessed consecutively by: air pulse tonometer (AT), Goldmann applanation tonometer (GAT), and ICH2 tonometer by the patient (ICH-P), then by an ophthalmologist (ICH-O). Reproducibility and agreement were assessed using a Bland-Altman test, and reliability was evaluated using an intraclass correlation coefficient (ICC).</div></div><div><h3>Results</h3><div>Mean IOP by ICH-P, ICH-O, AT, and GAT was, respectively, 18.02±6.53mmHg, 17.08±5.65mmHg, 15.60±4.48mmHg and 14.42±5.00mmHg. Bland-Altman analysis between ICH-P and GAT and between ICH-O and GAT showed good reliability, finding a mean bias of 3.59mmHg and 3.09mmHg respectively, with a 95% limit of agreement of –1.48 to 8.68mmHg and –1.35 to 7.53mmHg, respectively. The repeatability of the measurements was excellent: ICC's of the measurements on each eye by the AT, ICH-O, ICH-P and GAT were 0.979, 0.991, 0.989 and 0.992, respectively.</div></div><div><h3>Conclusion</h3><div>Although ICH2 appears to overestimate IOP compared with GAT, there was good correlation between ICH2 self-measurements and GAT. iCare HOME2 appears to have good repeatability and reproducibility, and therefore may be a valuable tool to assess IOP in routine glaucoma monitoring.</div></div><div><h3>Objectif</h3><div>Évaluer la reproductibilité et la fiabilité des auto-mesures de la pression intraoculaire (PIO) avec le tonomètre Icare Home 2 (ICH2, modèle TA023, Icare Oy, Vanda, Finlande) chez des patients souffrant d’hypertension oculaire ou de glaucome.</div></div><div><h3>Patients et méthodes</h3><div>Cinquante-deux yeux de 29 patients ont été inclus. La PIO a été évaluée consécutivement par : tonomètre à air pulsé (AT), tonomètre à applanation de Goldmann (GAT), et tonomètre ICH2 par le patient (ICH-P), puis par un ophtalmologiste (ICH-O). La reproductibilité et la concordance des mesures ont été évaluées à l’aide d’un test de Bland-Altman, et la fiabilité a été évaluée à l’aide d’un coefficient de corrélation intra-classe (ICC).</div></div><div><h3>Résultats</h3><div>La PIO moyenne selon l’ICH-P, l’ICH-O, l’AT et le GAT était respectivement de 18,02±6,53mmHg, 17,08±5,65mmHg, 15,60±4,48mmHg et 14,42±5,00mmHg. L’analyse de Bland-Altman entre ICH-P et GAT et entre ICH-O et GAT a montré une bonne fiabilité, avec un biais moyen de 3,59mmHg et 3,09mmHg respect","PeriodicalId":14777,"journal":{"name":"Journal Francais D Ophtalmologie","volume":"48 6","pages":"Article 104517"},"PeriodicalIF":1.2,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143825666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Evaluation of posterior ocular structure during fasting in healthy individuals 评估健康人禁食期间的眼球后部结构

IF 1.2 4区医学

Journal Francais D Ophtalmologie Pub Date : 2025-04-11 DOI: 10.1016/j.jfo.2025.104515

S.G.G. Icoz , S.A. Usta , M. Icoz

{"title":"Evaluation of posterior ocular structure during fasting in healthy individuals","authors":"S.G.G. Icoz , S.A. Usta , M. Icoz","doi":"10.1016/j.jfo.2025.104515","DOIUrl":"10.1016/j.jfo.2025.104515","url":null,"abstract":"<div><h3>Purpose</h3><div>To evaluate the effects of fasting on the retina, choroid, and optic disc in healthy individuals using optical coherence tomography (OCT).</div></div><div><h3>Method</h3><div>This prospectively designed study was conducted with 32 healthy healthcare workers. A detailed ophthalmological examination and OCT scans were performed on the participants 10 days before the beginning of Ramadan (the non-fasting period) and in the last 10 days of Ramadan (the fasting period). Using OCT, retinal layer thicknesses (ganglion cell+inner plexiform, retinal nerve fiber, and central retinal), optic disc head measurements (rim area, disc area, mean vertical cup/disc, and cup volume), and choroidal thicknesses (subfoveal, nasal, and temporal quadrants) were evaluated. Choroidal vascular parameters (luminal, stromal, and total choroidal area and choroidal vascular index [CVI]) were calculated using a special software module.</div></div><div><h3>Results</h3><div>The mean age of the participants was 31±11 (range: 19–48) years. No statistically significant differences were observed in intraocular pressure, axial length, body mass index, or mean arterial blood pressure evaluated at the visits during the fasting and non-fasting periods (<em>P</em>  >0.05 for all). However, choroidal vascular parameters, namely the luminal choroidal area, total choroidal area, and CVI, were statistically higher during the fasting period (<em>P</em>  =0.003, and <em>P</em>     <!-->plexiforme interne, fibre nerveuse rétinienne et rétine centrale), les mesures de la tête du disque optique (surface du bord, surface du disque, cupule/disque vertical moyen et volume de la cupule) et l’épaisseur de la choroïde (quadrants sous-fovéal, nasal et temporal). Les paramètres vasculaires de la choroïde (surface luminale","PeriodicalId":14777,"journal":{"name":"Journal Francais D Ophtalmologie","volume":"48 6","pages":"Article 104515"},"PeriodicalIF":1.2,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143815777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pattern ERG, pattern VEP, and GCL thickness in diabetic patients with no diabetic retinopathy 无糖尿病视网膜病变的糖尿病患者的ERG、VEP和GCL厚度

IF 1.2 4区医学

Journal Francais D Ophtalmologie Pub Date : 2025-04-11 DOI: 10.1016/j.jfo.2025.104513

J. Nehme , P. Raad , E. Jalkh , R. Karkouh , Z. Tamer , A. Jalkh , E.B. Quoc

{"title":"Pattern ERG, pattern VEP, and GCL thickness in diabetic patients with no diabetic retinopathy","authors":"J. Nehme , P. Raad , E. Jalkh , R. Karkouh , Z. Tamer , A. Jalkh , E.B. Quoc","doi":"10.1016/j.jfo.2025.104513","DOIUrl":"10.1016/j.jfo.2025.104513","url":null,"abstract":"<div><h3>Purpose</h3><div>The main objective of this study was to compare the retinal ganglion cell (RGC) function of diabetic patients without diabetic retinopathy with the RGC function of a control group, using functional tests and anatomical assessments.</div></div><div><h3>Methods</h3><div>A cross-sectional prospective pilot study was conducted on two groups. We compared the results of functional tests (Pattern ERG and Pattern VEP - PERG and PVEP) and anatomical tests (macular and RNFL OCT) in a diabetic group without diabetic retinopathy to a control group. The χ<sup>2</sup> test was used to study qualitative data, and the <em>t</em> test was used for quantitative data. The significance threshold was a <em>P</em> value less than 0.05.</div></div><div><h3>Results</h3><div>A total of 37 eyes were included in the study. None of the demographic variables showed any significant association or effect on any of the two groups. GCL thickness was significantly reduced in the diabetic group in the superior, inferior, and nasal outer circles, with a <em>P</em> value <0.001. The amplitude of the P100 wave was significantly reduced in the diabetic group, with a <em>P</em> value<0.05 for the pattern sizes of 60′ and 30′, and the diabetic group had a longer latency for the 15′ VEPs. All of the components of the PERG responses were significantly altered in the diabetic group, with a <em>P</em> value<0.05.</div></div><div><h3>Conclusion</h3><div>Our study indicates that combining different tests may be used as an early means of detection of compromised retinal neuron function in diabetic eyes during the course of early diabetic retinopathy.</div></div><div><h3>Objectif</h3><div>L’objectif principal de cette étude est de comparer la fonction des cellules ganglionnaires rétiniennes (GCL) chez les patients diabétiques sans rétinopathie diabétique avec celle d’un groupe témoin, en utilisant des tests fonctionnels et des évaluations anatomiques.</div></div><div><h3>Méthodes</h3><div>Une étude pilote prospective transversale a été menée sur deux groupes. Nous avons comparé les résultats des tests fonctionnels (ERG pattern et PEV pattern) et des tests anatomiques (OCT maculaire et RNFL) dans un groupe de diabétiques sans rétinopathie diabétique et dans un groupe témoin. Le test du χ<sup>2</sup> a été utilisé pour étudier les données qualitatives et le test <em>t</em> a été utilisé pour les données quantitatives. Le seuil de signification était un niveau de p inférieur à 0,05.</div></div><div><h3>Résultats</h3><div>Un total de 37 yeux a été inclus dans l’étude. Aucune des variables démographiques n’a montré d’association significative ou d’effet sur l’un des deux groupes. L’épaisseur de la couche des cellules ganglionnaires était significativement réduite dans le groupe diabétique dans les cercles externes supérieur, inférieur et nasal avec une valeur de <em>p</em>  <!-->0,001. L’amplitude","PeriodicalId":14777,"journal":{"name":"Journal Francais D Ophtalmologie","volume":"48 6","pages":"Article 104513"},"PeriodicalIF":1.2,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143815776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Impact of epithelial removal techniques on low contrast acuity after photorefractive keratectomy: A prospective randomized study 光屈光性角膜切除术后上皮去除技术对低对比敏锐度的影响：一项前瞻性随机研究

IF 1.2 4区医学

Journal Francais D Ophtalmologie Pub Date : 2025-04-11 DOI: 10.1016/j.jfo.2025.104514

I. Knezovic , N. Jovanovic

{"title":"Impact of epithelial removal techniques on low contrast acuity after photorefractive keratectomy: A prospective randomized study","authors":"I. Knezovic , N. Jovanovic","doi":"10.1016/j.jfo.2025.104514","DOIUrl":"10.1016/j.jfo.2025.104514","url":null,"abstract":"<div><h3>Significance</h3><div>This study reveals the advantage, in terms of quality of vision, of using mechanical debridement with rotating brushes versus chemical debridement, which has significant, broad practical applications for refractive surgeons, optometrists and patients. These findings may aid all parties in decision-making, as well as influence financial planning and time to full visual recovery.</div></div><div><h3>Purpose</h3><div>To compare the effect of the rotating brush and ethanol de-epithelization techniques on visual contrast sensitivity after photorefractive keratectomy (PRK).</div></div><div><h3>Methods</h3><div>This was a prospective, randomized study including myopic patients who underwent bilateral PRK, with one eye de-epithelialized with a rotating brush and the other with 20% ethanol, followed by wavefront-optimized laser ablation. Preoperative, 3- and 12-month postoperative thresholds of low contrast visual acuity were found to be 6%, 12.5%, and 25%, respectively. A nonparametric Friedman and post hoc test was used to compare measurements between the eyes and within-group differences.</div></div><div><h3>Results</h3><div>The study included 96 eyes. Related-sample Friedman's test showed significant statistical difference (<em>P</em>  <0.001, <em>P</em>  =0.013), and at the 25% threshold, a statistically significant difference was observed (<em>P</em>  <0.001).</div></div><div><h3>Conclusion</h3><div>Both corneal epithelial debridement techniques are safe and effective methods for epithelial removal. Nevertheless, in our study, the mechanical debridement technique showed slightly better results in terms of visual contrast sensitivity during the 12-month postoperative follow-up period.</div></div><div><h3>Importance</h3><div>L’étude révèle l’avantage de l’utilisation d’un débridement mécanique avec des brosses rotatives par rapport au débridement chimique sur la qualité de la vision, ce qui a une large application pratique significative pour les chirurgiens réfractifs, les optométristes et les patients. Ces résultats peuvent faciliter la prise de décision dans tous les domaines et influencer la planification financière et un calen","PeriodicalId":14777,"journal":{"name":"Journal Francais D Ophtalmologie","volume":"48 6","pages":"Article 104514"},"PeriodicalIF":1.2,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143815778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Étude de faisabilité d’une téléexpertise d’ophtalmologie en milieu pénitentiaire 监狱眼科远程专业知识的可行性研究

IF 1.2 4区医学

Journal Francais D Ophtalmologie Pub Date : 2025-04-09 DOI: 10.1016/j.jfo.2025.104512

P. Villain, F. Mouriaux, M. Soethoudt

{"title":"Étude de faisabilité d’une téléexpertise d’ophtalmologie en milieu pénitentiaire","authors":"P. Villain, F. Mouriaux, M. Soethoudt","doi":"10.1016/j.jfo.2025.104512","DOIUrl":"10.1016/j.jfo.2025.104512","url":null,"abstract":"<div><h3>Introduction</h3><div>L’accès à des soins spécialisés en milieu carcéral est complexe et difficile, particulièrement en ophtalmologie. L’objectif principal de cette étude était de mettre en place une téléexpertise d’ophtalmologie en milieu pénitentiaire pour améliorer le dépistage visuel.</div></div><div><h3>Matériels et méthodes</h3><div>Il s’agit d’une étude prospective, monocentrique, observationnelle descriptive portant sur tous les patients adressés, présents ou entrants au sein du centre pénitentiaire pour hommes de Rennes. L’examen ophtalmologique a été réalisé grâce des appareils semi-automatisés VX 650 et Eye Refract par le personnel médical et paramédical du centre pénitentiaire non qualifié en ophtalmologie. Le critère de jugement principal était un critère composite de faisabilité, permettant la validation de l’acte de téléexpertise. Celui-ci a évalué l’association d’une pression intraoculaire, d’une rétinographie et d’une lampe à fente, interprétables, associées à une acuité visuelle cohérente.</div></div><div><h3>Résultats</h3><div>Quatre-vingt seize patients ont participé à l’étude, l’âge moyen était de 41 ans. Le critère de jugement principal a été atteint pour 78 téléexpertises (81,3 %). Soixante-deux téléexpertises (64,6 %) ont été validées sans nécessité d’une consultation en présentiel.</div></div><div><h3>Discussion</h3><div>Dans notre étude, 34 patients (35,4 %) ont nécessité un deuxième examen en présentiel. Cela s’explique principalement par deux critères de convocation (analyse de l’angle iridocornéen et erreurs de réfraction subjective). Notre protocole de téléexpertise d’ophtalmologie pourra être amélioré par une prise en charge à distance par un professionnel qualifié (ophtalmologiste, orthoptiste) dans certaines situations afin de réduire le nombre de patients convoqués pour une consultation de contrôle.</div></div><div><h3>Introduction</h3><div>Access to specialty care in prisons is complex and difficult, particularly in ophthalmology. The main goal of this study was to set up an ophthalmology telemedicine service in prisons to improve visual screening.</div></div><div><h3>Materials and methods</h3><div>This was a prospective, single-center, observational, descriptive study including all patients referred, present, or entering the men's penitentiary in Rennes. The ophthalmological examination was performed using the semi-automated devices, VX 650 and Eye Refract, by the medical and paramedical staff of the penitentiary, who were not qualified in ophthalmology. The primary endpoint was a composite feasibility criterion, allowing validation of the telemedicine encounter. It assessed a combination of interpretable intraocular pressure, fundus photography, slit-lamp examination and consistent visual acuity.</div></div><div><h3>Results</h3><div>Ninety-six patients participated in the study, with a mean age of 41years. The primary endpoint was achieved for 78 telemedicine encounters (81.3%). Sixty-two e","PeriodicalId":14777,"journal":{"name":"Journal Francais D Ophtalmologie","volume":"48 6","pages":"Article 104512"},"PeriodicalIF":1.2,"publicationDate":"2025-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143799526","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genotyping methods for Fuchs corneal endothelial dystrophy 富氏角膜内皮营养不良的基因分型方法

IF 1.2 4区医学

Journal Francais D Ophtalmologie Pub Date : 2025-04-04 DOI: 10.1016/j.jfo.2025.104509

D. Onitiu , I. Harzallah , H. Vaitinadapoule , F. Mascarelli , R. Touraine , Z. He , O. Dorado-Cortez , M.C. Trone , P. Gain , G. Thuret

{"title":"Genotyping methods for Fuchs corneal endothelial dystrophy","authors":"D. Onitiu , I. Harzallah , H. Vaitinadapoule , F. Mascarelli , R. Touraine , Z. He , O. Dorado-Cortez , M.C. Trone , P. Gain , G. Thuret","doi":"10.1016/j.jfo.2025.104509","DOIUrl":"10.1016/j.jfo.2025.104509","url":null,"abstract":"<div><div>Fuchs endothelial corneal dystrophy (FECD) is a genetic degenerative disease characterized by the progressive degradation of the corneal endothelium, often leading to vision loss. It is the leading cause of corneal transplantation in the Western world. FECD is more common in Europe and the United States, particularly among women. FECD manifests in two forms: an early-onset, rare form linked to mutations in the <em>COL8A2</em> gene, and a late-onset, more common form associated with the expansion of the CTG18.1 triplet in the <em>TCF4</em> gene. This expansion is present in about 70% of Caucasian patients with the late-onset form and can cause cellular dysfunctions. In this article, we present a review of the techniques used to genotype variants of genes associated with FECD. Six genotyping methods have been identified. Each method has advantages and disadvantages in terms of cost, throughput, sensitivity, and specificity: STR PCR, TP PCR, Southern Blot, Sanger Sequencing, short-read NGS, and long-read NGS. FECD presents complex genetic challenges. A combined approach using various genotyping techniques is necessary for a comprehensive characterization. Two strategies seem promising for diagnosis and research in this field: (1) the combination of STR PCR and TP PCR followed by short-read or long-read NGS; and (2) long-read NGS alone. These approaches allow for more precise characterization of genetic variants, thus facilitating a better understanding of the underlying mechanisms of FECD.</div></div><div><div>La dystrophie endothéliale cornéenne de Fuchs (FECD) est une maladie dégénérative génétique, caractérisée par la dégradation progressive de l’endothélium cornéen, souvent menant à une perte de vision. Elle est la principale cause de transplantation cornéenne en Occident. La FECD est plus fréquente en Europe et aux États-Unis, surtout chez les femmes. La FECD se manifeste sous deux formes : une forme précoce, rare, liée à des mutations dans le gène <em>COL8A2</em>, et une forme tardive, plus commune, associée à l’expansion du triplet CTG18.1 dans le gène <em>TCF4</em>. Cette expansion est présente chez environ 70 % des patients caucasiens atteints de la forme tardive et peut causer des dysfonctionnements cellulaires. Dans cet article, nous présentons une revue des techniques utilisées pour génotyper les variants des gènes associés à la FECD. Six méthodes de génotypage ont été identifiées. Chaque méthode présente des avantages et des inconvénients en termes de coût, de débit, de sensibilité et de spécificité: STR PCR, TP PCR, Southern Blot, Séquençage Sanger, NGS <em>short-read</em>, NGS <em>long-read</em>. La FECD présente des défis génétiques complexes. Une approche combinant diverses techniques de génotypage est nécessaire pour une caractérisation complète. Deux stratégies semblent être prometteuses pour le diagnostic et la recherche dans ce domaine : (1) la combinaison de la STR PCR et la TP PCR suivie du NGS <em>short-read</em> ou","PeriodicalId":14777,"journal":{"name":"Journal Francais D Ophtalmologie","volume":"48 5","pages":"Article 104509"},"PeriodicalIF":1.2,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143768882","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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Sommaire 目录

IF 1.2 4区医学

Journal Francais D Ophtalmologie Pub Date : 2025-04-01 DOI: 10.1016/S0181-5512(25)00103-2

引用次数: 0

Leaf-like grouping of epicapsular stars 叶状上囊星群。

IF 1.2 4区医学

Journal Francais D Ophtalmologie Pub Date : 2025-04-01 DOI: 10.1016/j.jfo.2025.104463

C. Khodriss, E. Firdaous Essaddouqui, M. El Bahloul

引用次数: 0