Journal Francais D Ophtalmologie最新文献

{"title":"Conjunctival burn using micropulse transscleral cyclophotocoagulation","authors":"V. Vermot-Desroches,&nbsp;A. Barbarroux,&nbsp;L. Sejournet,&nbsp;P. Denis","doi":"10.1016/j.jfo.2025.104568","DOIUrl":"10.1016/j.jfo.2025.104568","url":null,"abstract":"<div><div>We report the case of a 37-year-old patient who experienced a conjunctival burn due to overheating of the probe of a micropulse transscleral cyclophotocoagulation device. Fortunately, the outcome was favorable; however, the persistent conjunctival fibrosis may pose future surgical problems for this young glaucoma patient. It is essential to be aware of this rare complication and to take appropriate precautions to prevent it.</div></div><div><div>Nous rapportons le cas d’un patient de 37 ans, qui a présenté une brûlure conjonctivale due à une surchauffe de la sonde du laser diode micropulsé lors d’un cyclo-affaiblissement. Heureusement, l’évolution fut favorable ; mais la fibrose sous conjonctivale persistante pourrait entraîner de futures complications chirurgicales pour ce jeune patient atteint de glaucome. Il est important de connaître cette complication rare, et de prendre les précautions appropriées pour la prévenir.</div></div>","PeriodicalId":14777,"journal":{"name":"Journal Francais D Ophtalmologie","volume":"48 7","pages":"Article 104568"},"PeriodicalIF":1.2,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144243381","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}

{"title":"Change in intraocular lens power calculation results after ptosis surgery","authors":"M. Mutlu Sönmez ,&nbsp;E. Savran Elibol ,&nbsp;H. Oğuz","doi":"10.1016/j.jfo.2025.104571","DOIUrl":"10.1016/j.jfo.2025.104571","url":null,"abstract":"<div><h3>Purpose</h3><div>To evaluate the difference between intraocular lens power calculation and ocular biometric parameters before and after anterior levator resection surgery (ALR).</div></div><div><h3>Methods</h3><div>In this prospective study, patients with involutional ptosis who underwent ALR surgery were included. Ocular biometric parameters were obtained preoperatively and 3 and 6 months postoperatively.</div></div><div><h3>Results</h3><div>Forty-five patients with ptosis were selected for the study, 25 eyes had only ALR surgery, and 20 eyes had both ALR and upper lid blepharoplasty. The mean keratometry (Km) value significantly decreased from the preoperative value at 3 months postoperatively (<em>P</em> <!-->=<!--> <!-->0.026) and did not change between 3 and 6 months (<em>P</em> <!-->=<!--> <!-->0.4). The mean preoperative MRD-1 level was 0.86<!--> <!-->±<!--> <!-->1.1<!--> <!-->mm, 3.4<!--> <!-->±<!--> <!-->0.9<!--> <!-->mm at 3 months, and 3.45<!--> <!-->±<!--> <!-->1<!--> <!-->mm at 6 months postoperatively (<em>P</em> <!-->=<!--> <!-->0.0001). The mean IOL power targeting emmetropia increased at 3 months postoperatively (<em>P</em> <!-->=<!--> <!-->0.041) and did not change between 3 and 6 months (<em>P</em> <!-->=<!--> <!-->0.2). There was a negative correlation between MRD-1 level, K1, K2 and Km after 6 months (<em>r</em>: –0.171, <em>P</em>: 0.02; <em>r</em>: –0.334, <em>P</em>: 0.04; <em>r</em>: –041, <em>P</em>: 0.001 respectively), whereas there was a positive correlation between MRD-1 level and IOL power after 6 months (<em>r</em>: 0.348, <em>P</em>: 0.04). The mean Km, IOL power and MRD-1 levels were not statistically different between ALR-only patients and ALR-blepharoplasty patients at 6 months postoperatively (<em>P</em>: 0.2, 0.07, 0.32 respectively).</div></div><div><h3>Conclusion</h3><div>Ptosis surgery can affect IOL power postoperatively due to keratometric changes, and these changes stabilize at 3 months after surgery. Keratometric measurements have been shown to be related to postoperative eyelid position.</div></div>","PeriodicalId":14777,"journal":{"name":"Journal Francais D Ophtalmologie","volume":"48 7","pages":"Article 104571"},"PeriodicalIF":1.2,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144221902","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}

{"title":"Chatbots in keratorefractive surgery patient education","authors":"H. Daungsupawong ,&nbsp;V. Wiwanitkit","doi":"10.1016/j.jfo.2025.104569","DOIUrl":"10.1016/j.jfo.2025.104569","url":null,"abstract":"","PeriodicalId":14777,"journal":{"name":"Journal Francais D Ophtalmologie","volume":"48 7","pages":"Article 104569"},"PeriodicalIF":1.2,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144212437","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}

{"title":"Sommaire","authors":"","doi":"10.1016/S0181-5512(25)00146-9","DOIUrl":"10.1016/S0181-5512(25)00146-9","url":null,"abstract":"","PeriodicalId":14777,"journal":{"name":"Journal Francais D Ophtalmologie","volume":"48 6","pages":"Article 104564"},"PeriodicalIF":1.2,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144170393","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}

{"title":"Retraction notice of: Retroprosthetic Membrane Formation in Boston Keratoprosthesis Type 1: Incidence, Predisposing Factors, Complications, and Treatment [J. Fr. Ophtalmol. 47 (2024) 103995]","authors":"M. Mina ,&nbsp;M. Harissi-Dagher","doi":"10.1016/j.jfo.2025.104547","DOIUrl":"10.1016/j.jfo.2025.104547","url":null,"abstract":"","PeriodicalId":14777,"journal":{"name":"Journal Francais D Ophtalmologie","volume":"48 6","pages":"Article 104547"},"PeriodicalIF":1.2,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144169799","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}

{"title":"Tomographie par cohérence optique-angiographie (Optical coherence tomography angiography (OCTA) et nerf optique (hors glaucome)","authors":"H. Merle ,&nbsp;M. Pierre ,&nbsp;A. Jean-Charles","doi":"10.1016/j.jfo.2025.104546","DOIUrl":"10.1016/j.jfo.2025.104546","url":null,"abstract":"<div><div>La tomographie par cohérence optique-angiographie (<em>optical coherence tomography angiography</em> ([OCTA]) est un examen non invasif, fiable et reproductible. Contrairement à l’angiographie à la fluorescéine, l’OCTA permet d’analyser le lit capillaire sans être gêné par les phénomènes de diffusion. Son emploi est maintenant largement répandu pour le diagnostic et le suivi des maladies rétiniennes et choroïdiennes. Cependant, son usage dans l’exploration du nerf optique est encore limité. Récemment, l’arrivée de logiciels qui permettent une quantification des données, complètent les images de la vascularisation maculaire et papillaire. Cette revue expose les résultats obtenus en OCTA au cours de l’exploration des principales affections du nerf optique acquises ou congénitales en dehors de la neuropathie optique glaucomateuse. Dans la plupart des cas, l’OCTA montrent des modifications de la vascularisation rétinienne ou papillaire en corrélation avec l’atteinte des fibres nerveuses rétiniennes, de la couche des cellules ganglionnaires et la fonction visuelle. L’OCTA contribue à améliorer la compréhension physiopathologique des affections du nerf optique sans pouvoir encore préciser si ces modifications sont une cause ou une conséquence de la maladie. L’utilisation de l’OCTA est pertinente en neuro-ophtalmologie. Outre la détection et le diagnostic, l’OCTA pourrait être employé pour le suivi ou la surveillance des traitements mis en place.</div></div><div><div>Optical coherence tomography angiography (OCTA) is a non-invasive, reliable, repeatable exam. As opposed to fluorescein angiography, OCTA allows analysis of the capillary bed without interference from diffusion phenomena. It is now widely used for both the diagnosis and ongoing care of retinal and choroidal diseases. However, its use is still limited for evaluation of the optic nerve. Recently, new data quantification software can add value to macular and papillary vascularization images. This review details OCTA results in the most important optic nerve conditions, whether acquired or congenital, other than glaucoma. In most cases, OCTA shows modifications of the retinal or papillary vascularization systematically impacting retinal nerve fibers, ganglion cells layer and visual acuity. OCTA contributes to a better understanding of the pathophysiology of optic nerve disease without being able to specify yet whether the modifications cause or are caused by the disease. OCTA is particularly useful for neuro-ophthalmology. In addition to detection and diagnosis, OCTA can be used for follow-up and monitoring of treatment response.</div></div>","PeriodicalId":14777,"journal":{"name":"Journal Francais D Ophtalmologie","volume":"48 6","pages":"Article 104546"},"PeriodicalIF":1.2,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144090167","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}

{"title":"Ocular surface evaluation in atopic dermatitis patients on dupilumab: A prospective observational study","authors":"L. Béal ,&nbsp;M. Lamiaux ,&nbsp;E. Guerrien-Sevrin ,&nbsp;A. Lasek ,&nbsp;P. Modiano ,&nbsp;S. Doan ,&nbsp;T.H.C. Tran","doi":"10.1016/j.jfo.2025.104544","DOIUrl":"10.1016/j.jfo.2025.104544","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Purpose&lt;/h3&gt;&lt;div&gt;To describe the ocular surface findings in atopic dermatitis patients treated with dupilumab.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Method&lt;/h3&gt;&lt;div&gt;This is an observational study including atopic dermatitis patients treated with dupilumab from January 2018 to July 2019. At baseline, patients underwent dermatological and ophthalmological assessments and at least one other joint visit during the 6-month follow-up. Appointments were scheduled at baseline, 1, 3, and 6&lt;!--&gt; &lt;!--&gt;months for ophthalmologists. Ocular assessment included past ocular history and symptoms, Ocular Surface Disease Index (OSDI) score, slit lamp examination, tear film Break Up Time and Schirmer's test. Atopic dermatitis severity scores were assessed at baseline and 3 and 6&lt;!--&gt; &lt;!--&gt;months by dermatologists.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;div&gt;Forty-six patients were included. Among them, 31 (67%) had preexisting ocular surface disease at baseline. Mean follow-up was 7.1&lt;!--&gt; &lt;!--&gt;±&lt;!--&gt; &lt;!--&gt;1.6&lt;!--&gt; &lt;!--&gt;months. At the 6-month endpoint, 8 patients (17%) developed newly diagnosed ocular surface disease; 13 patients (28%) experienced exacerbation of ocular surface disease; 8 patients (17%) had stable ocular surface disease, 10 patients (22%) experienced an improvement in their ocular surface disease on dupilumab, and 7 patients (15%) had no ocular surface disease from baseline to the endpoint. The presence of eyelid eczema at baseline was associated with the occurrence of dupilumab induced ocular surface disease. Only 3 patients (7%) had to discontinue treatment due to ocular adverse events.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Conclusion&lt;/h3&gt;&lt;div&gt;Atopic dermatitis patients treated with dupilumab may develop polymorphic, potentially severe ocular surface disease. These results highlight the need for careful examination of the eyelids and globe of atopic dermatitis patients and early examination by ophthalmologists if conjunctivitis does not resolve with non-steroid eye drops.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Objectif&lt;/h3&gt;&lt;div&gt;Décrire les atteintes de surface oculaire au cours des dermatites atopiques sous dupilumab.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Méthode&lt;/h3&gt;&lt;div&gt;Il s’agit d’une étude observationnelle réalisée entre janvier 2018 et juillet 2019, chez des patients ayant une dermatite atopique et pour qui du dupilumab a été introduit. Le suivi ophtalmologique a été réalisé à l’inclusion, au 1&lt;sup&gt;er&lt;/sup&gt;, 3&lt;sup&gt;e&lt;/sup&gt; et 6&lt;sup&gt;e&lt;/sup&gt; mois. L’ophtalmologue évaluait les antécédents et les symptômes oculaires, le score OSDI (Ocular Surface Disease Index), le segment antérieur en biomicroscopie, le BUT et réalisait un test de Schirmer. L’examen dermatologique déterminait le score de sévérité de la dermatite atopique à l’inclusion, au 3&lt;sup&gt;e&lt;/sup&gt; et au 6&lt;sup&gt;e&lt;/sup&gt; mois.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Résultats&lt;/h3&gt;&lt;div&gt;Quarante-six patients ont été inclus. Trente et un (67 %) avaient dès l’inclusion une atteinte pré-existante de surface oculaire. Le suivi moyen était de 7,1&lt;!--&gt; &lt;!--&gt;±&lt;!--&gt; &lt;!--&gt;1,6 mois. À 6 mois, 8 pa","PeriodicalId":14777,"journal":{"name":"Journal Francais D Ophtalmologie","volume":"48 6","pages":"Article 104544"},"PeriodicalIF":1.2,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143916952","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}

{"title":"Validation of iCare IC200® rebound tonometry for intraocular pressure measurement","authors":"B. Vieyres ,&nbsp;A. Coutu ,&nbsp;B. Pereira ,&nbsp;V. Navel ,&nbsp;J.S. Baker ,&nbsp;F. Chiambaretta ,&nbsp;F. Dutheil","doi":"10.1016/j.jfo.2025.104545","DOIUrl":"10.1016/j.jfo.2025.104545","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Purpose&lt;/h3&gt;&lt;div&gt;To validate the measurement of intraocular pressure (IOP) using rebound tonometry (RT) compared to Goldmann applanation tonometry (GAT).&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Methods&lt;/h3&gt;&lt;div&gt;We measured air puff tonometry (AT) with estimation of pachymetry, then IOP using GAT and RT in adult patients. We measured internal validity (agreement with Lin concordance coefficient–LCC, sensitivity and specificity for ocular hypertension (IOP threshold&lt;!--&gt; &lt;!--&gt;&gt;&lt;!--&gt; &lt;!--&gt;21&lt;!--&gt; &lt;!--&gt;mmHg) and external validity (depending on pachymetry and body mass index) and determined the most comfortable method for the patients.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;div&gt;We included 341 eyes of 171 patients (73.2&lt;!--&gt; &lt;!--&gt;±&lt;!--&gt; &lt;!--&gt;10.7 years old, 52.1% men). Mean IOP was 16.5&lt;!--&gt; &lt;!--&gt;±&lt;!--&gt; &lt;!--&gt;4.7&lt;!--&gt; &lt;!--&gt;mmHg for RT and 16.2&lt;!--&gt; &lt;!--&gt;±&lt;!--&gt; &lt;!--&gt;4.1&lt;!--&gt; &lt;!--&gt;mmHg for GAT. Mean IOP difference between RT and GAT was 0.31&lt;!--&gt; &lt;!--&gt;±&lt;!--&gt; &lt;!--&gt;1.43&lt;!--&gt; &lt;!--&gt;mmHg; LCC was 0.95 (0.94 to 0.96, &lt;em&gt;P&lt;/em&gt; &lt;!--&gt;=&lt;!--&gt; &lt;!--&gt;0.005). The prevalence of eyes with an IOP measurement &gt;&lt;!--&gt; &lt;!--&gt;21&lt;!--&gt; &lt;!--&gt;mmHg was 15.5% for RT and 12.6% for GAT. Sensitivity and specificity of RT were 86% (71.1% to 94.7%) and 94.6% (91.4% to 96.9%) respectively. Depending on pachymetry, LCC was 0.98 (0.98 to 0.99), 0.94 (0.91 to 0.97), 0.94 (0.92 to 0.96), and 0.88 (0.83 to 0.93) between RT and GAT, respectively for the 4 pachymetry groups (&lt;&lt;!--&gt; &lt;!--&gt;500, 500–520, 520–560, &gt;&lt;!--&gt; &lt;!--&gt;560&lt;!--&gt; &lt;!--&gt;μm). Results were similar across BMI ranges (&lt;&lt;!--&gt; &lt;!--&gt;25, 25–30, 30–35, &gt;&lt;!--&gt; &lt;!--&gt;35). The most comfortable method was RT for 87% of patients.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Conclusion&lt;/h3&gt;&lt;div&gt;RT is highly reliable in adult IOP measurement and independent of pachymetry and BMI.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Objectif&lt;/h3&gt;&lt;div&gt;Valider la mesure de la pression intra-oculaire (PIO) à l’aide de la tonométrie à rebond (RT), par rapport à la tonométrie à aplanation de Goldmann (GAT).&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Méthodes&lt;/h3&gt;&lt;div&gt;Nous avons mesuré la tonométrie à air (AT) avec estimation de la pachymétrie, puis la PIO en utilisant la GAT et la RT chez des patients adultes. Nous avons mesuré la validité interne (Coefficient de concordance de Lin–LCC, sensibilité et spécificité pour l’hypertonie oculaire (seuil de PIO&lt;!--&gt; &lt;!--&gt;&gt;&lt;!--&gt; &lt;!--&gt;21&lt;!--&gt; &lt;!--&gt;mmHg) et la validité externe (en fonction de la pachymétrie et de l’indice de masse corporelle), et la méthode la plus confortable.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Résultats&lt;/h3&gt;&lt;div&gt;Nous avons inclus 341 yeux provenant de 171 patients (73,2&lt;!--&gt; &lt;!--&gt;±&lt;!--&gt; &lt;!--&gt;10,7 ans, 52,1 % d’hommes). La PIO moyenne était de 16,5&lt;!--&gt; &lt;!--&gt;±&lt;!--&gt; &lt;!--&gt;4,7&lt;!--&gt; &lt;!--&gt;mmHg pour la RT, de 16,2&lt;!--&gt; &lt;!--&gt;±&lt;!--&gt; &lt;!--&gt;4,1&lt;!--&gt; &lt;!--&gt;mmHg pour la GAT. La différence moyenne de PIO entre RT et GAT était de 0,31&lt;!--&gt; &lt;!--&gt;±&lt;!--&gt; &lt;!--&gt;1,43&lt;!--&gt; &lt;!--&gt;mmHg, la LCC était de 0,95 (0,94 à 0,96, &lt;em&gt;p&lt;/em&gt; &lt;!--&gt;=&lt;!--&gt; &lt;!--&gt;0,005). La prévalence des yeux avec une PIO&lt;!--&gt; &lt;!--&gt;&gt;&lt;!--&gt;","PeriodicalId":14777,"journal":{"name":"Journal Francais D Ophtalmologie","volume":"48 6","pages":"Article 104545"},"PeriodicalIF":1.2,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143916953","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}

{"title":"Pigmentary glaucoma in a patient with 48,XXYY syndrome","authors":"T. Vavasseur ,&nbsp;J.-M. Giraud ,&nbsp;J.-R. Fénolland","doi":"10.1016/j.jfo.2025.104542","DOIUrl":"10.1016/j.jfo.2025.104542","url":null,"abstract":"<div><h3>Objective</h3><div>We report the case of a patient with 48,XXYY genetic syndrome and pigmentary glaucoma.</div></div><div><h3>Background</h3><div>48,XXYY syndrome is a very rare sporadic genetic condition with a variety of clinical signs and symptoms. Similarly to Klinefelter syndrome, the principal symptom is hypergonadotrophic hypogonadism, leading to infertility. Several other common features of this syndrome, including developmental delay, behavioral difficulties and facial dysmorphism, have been described. Nevertheless, associations between 48,XXYY syndrome and ocular manifestations are rare or at least not clearly described in the medical literature.</div></div><div><h3>Case presentation</h3><div>A 37-year-old patient with karyotype 48,XXYY presented with a known history of pigment dispersion syndrome. Both slit lamp examination and gonioscopy revealed signs of pigmentary glaucoma. The appearance of the optic nerve on both fundus examination and OCT and the visual fields showed end-stage glaucoma in one eye and severe glaucoma in the fellow eye.</div></div><div><h3>Conclusions</h3><div>Ocular manifestations in 48,XXYY syndrome, or more generally in sex chromosomal aneuploidies, are rarely described in the medical literature. In this article, we report a case of pigmentary glaucoma in a patient with 48,XXYY syndrome.</div></div><div><h3>Objectif</h3><div>Nous rapportons le cas d’un patient avec un syndrome génétique 48,XXYY atteint de glaucome pigmentaire.</div></div><div><h3>Historique</h3><div>Le syndrome 48,XXYY est une affection génétique sporadique très rare avec des manifestations cliniques et des symptômes variés. Tout comme le syndrome de Klinefelter, le principal symptôme est l’hypogonadisme hypergonadotrophique à l’origine d’une infertilité. Plusieurs autres caractéristiques communes de ce syndrome ont été décrites, notamment un retard de développement, des difficultés comportementales ainsi qu’un dysmorphisme facial. Néanmoins, l’association entre le syndrome de Klinefelter et des manifestations oculaires sont rares ou du moins, pas clairement décrites dans la littérature médicale.</div></div><div><h3>Présentation du cas</h3><div>Un patient de 37 ans, avec un caryotype 48,XXYY, consulte pour un syndrome de dispersion pigmentaire connu, confirmé par l’examen à la lampe à fente et par la gonioscopie. L’aspect du nerf optique au fond d’œil et les examens OCTs et du champ visuel ont révélé un glaucome agonique sur un œil et un glaucome sévère sur l’autre.</div></div><div><h3>Conclusions</h3><div>Les manifestations oculaires du syndrome 48,XXYY ou plus généralement des aneuploïdies des chromosomes sexuels sont rarement décrites dans la littérature médicale. Dans cet article, nous rapportons un cas de glaucome pigmentaire chez un patient atteint de syndrome 48,XXYY.</div></div>","PeriodicalId":14777,"journal":{"name":"Journal Francais D Ophtalmologie","volume":"48 6","pages":"Article 104542"},"PeriodicalIF":1.2,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143916956","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}

{"title":"Protocole national de diagnostic et de soins pour la prise en charge de la maladie de Coats : résumé pour le médecin traitant et le généraliste","authors":"A. Daruich ,&nbsp;D. Bremond-Gignac ,&nbsp;A. Aziz ,&nbsp;C. Couret ,&nbsp;M. Gallice ,&nbsp;V. Krivosic ,&nbsp;L. Lequeux ,&nbsp;A. Matet ,&nbsp;F. Metge ,&nbsp;A. Mière ,&nbsp;P. Ramtohul ,&nbsp;PNDS COATS GROUP","doi":"10.1016/j.jfo.2025.104539","DOIUrl":"10.1016/j.jfo.2025.104539","url":null,"abstract":"<div><div>La maladie de Coats (ORPHA:190) est une pathologie rétinienne rare, dont la présentation clinique et la sévérité sont variables, pouvant entraîner un retard diagnostique avec des conséquences fonctionnelles et anatomiques sur l’œil atteint. Sa reconnaissance et sa prise en charge précoces sont d’une importance capitale pour le pronostic, et pour ne pas retarder la prise en charge des diagnostics différentiels, le plus redoutable étant le rétinoblastome, tumeur oculaire maligne la plus fréquente chez l’enfant. L’objectif de ce protocole national de diagnostic et de soins (PNDS) est de présenter aux professionnels de santé concernés les modalités optimales de prise en charge diagnostique et thérapeutique actuelles, ainsi que le parcours de soins des patients nécessitant un traitement pour une maladie de Coats. Il vise à optimiser et harmoniser la prise en charge de cette pathologie rare sur l’ensemble du territoire. Les principales modalités de diagnostic, traitement et suivi seront revues afin d’établir des recommandations de bonne pratique.</div></div><div><div>Coats disease (ORPHA:190) is a rare retinal disorder characterized by variable clinical presentation and severity, often leading to diagnostic delays and potentially causing both functional and anatomic consequences for the affected eye. Early detection and treatment are essential for a favorable prognosis and to prevent delays in addressing differential diagnoses, with retinoblastoma, the most common malignant ocular tumor in children, being the most critical concern. The objective of this National Diagnosis and Treatment Protocol (PNDS) is to present the optimal current diagnostic and therapeutic management strategies to the involved healthcare professionals, as well as the care pathway for patients requiring treatment for Coats disease. It aims to optimize and standardize the management of this rare condition across the entire country. The key diagnostic, treatment, and follow-up options will be reviewed to establish best practice recommendations.</div></div>","PeriodicalId":14777,"journal":{"name":"Journal Francais D Ophtalmologie","volume":"48 6","pages":"Article 104539"},"PeriodicalIF":1.2,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143916960","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}