European Journal of Ophthalmology最新文献_第3页

A case of diplopia masquerading as ptosis: Unveiling a hidden clival chordoma.

IF 1.4 4区医学

European Journal of Ophthalmology Pub Date : 2025-03-13 DOI: 10.1177/11206721251323631

Neslihan Sevimli, Güneş Taydaş, Beril Aycan Yağız

引用次数: 0

Microvascular changes after proton beam radiotherapy for iris melanoma: An optical coherence tomography angiography study.

IF 1.4 4区医学

European Journal of Ophthalmology Pub Date : 2025-03-13 DOI: 10.1177/11206721251319822

Matteo Fallico, Antonio Longo, Teresio Avitabile, Pietro Alosi, Edoardo Dammino, Michele Reibaldi, Paola Marolo, Guglielmo Parisi, Niccolò Castellino, Vincenza Bonfiglio, Rosario Caltabiano, Giuseppe Broggi, Pietro Foti, Corrado Spatola, Marco Ragusa, Cristina Barbagallo, Enrico Borrelli, Andrea Russo

{"title":"Microvascular changes after proton beam radiotherapy for iris melanoma: An optical coherence tomography angiography study.","authors":"Matteo Fallico, Antonio Longo, Teresio Avitabile, Pietro Alosi, Edoardo Dammino, Michele Reibaldi, Paola Marolo, Guglielmo Parisi, Niccolò Castellino, Vincenza Bonfiglio, Rosario Caltabiano, Giuseppe Broggi, Pietro Foti, Corrado Spatola, Marco Ragusa, Cristina Barbagallo, Enrico Borrelli, Andrea Russo","doi":"10.1177/11206721251319822","DOIUrl":"https://doi.org/10.1177/11206721251319822","url":null,"abstract":"PurposeTo evaluate macular and peripapillary microvascular changes after proton beam radiotherapy for iris melanoma using optical coherence tomography angiography (OCT-A).MethodsPatients treated with proton beam radiotherapy for iris melanoma were included in the iris melanoma group. Fellow eyes were used as controls. Vessel density (VD) of the superficial capillary plexus (SCP) and deep capillary plexus (DCP) of the macula, radial peripapillary capillary plexus (RPCP) and foveal avascular zone (FAZ) were evaluated using OCT-A. Central macular thickness (CMT) and nerve fiber layer thickness (RNFL) were also investigated.ResultsA total of 11 patients were included. Vessel density in the whole SCP was comparable between treated eyes and untreated fellow eyes (p = 0.32). Vessel density in the whole DCP was lower in the iris melanoma group compared with untreated fellow eyes: 39% [standard deviation (SD) 1.9] versus 49% (SD 4.1), respectively (p < 0.001). Vessel density of the whole RPCP was lower in the iris melanoma group compared with untreated fellow eyes: 44% (SD 3.5) versus 48% (SD 2.2), respectively (p = 0.02). No differences between treated eyes and untreated fellow eyes were noted when evaluating FAZ, CMT and RNFL thickness.ConclusionIrradiation of the iris may determine vascular damage in the uveal tract, which, consequently, can affect the retinal vascular network. Changes in OCT-A parameters detected in DCP and RPCP may be early signs of microvascular impairment in these patients.","PeriodicalId":12000,"journal":{"name":"European Journal of Ophthalmology","volume":" ","pages":"11206721251319822"},"PeriodicalIF":1.4,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143623791","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

A case of progressive and irreversible visual loss as a consequence of delayed diagnosis in cerebrospinal fluid venous fistula.

IF 1.4 4区医学

European Journal of Ophthalmology Pub Date : 2025-03-13 DOI: 10.1177/11206721251321880

Lucio Zeppa, Maria Laura Passaro, Amedeo Guida, Fabio Tortora, Carlo Petruzziello, Michele Rinaldi, Ciro Costagliola

{"title":"A case of progressive and irreversible visual loss as a consequence of delayed diagnosis in cerebrospinal fluid venous fistula.","authors":"Lucio Zeppa, Maria Laura Passaro, Amedeo Guida, Fabio Tortora, Carlo Petruzziello, Michele Rinaldi, Ciro Costagliola","doi":"10.1177/11206721251321880","DOIUrl":"https://doi.org/10.1177/11206721251321880","url":null,"abstract":"PurposeCerebrospinal fluid venous fistulas (CVFs) are a frequently underrecognized cause of cerebrospinal fluid (CSF) leaks, leading to intracranial hypotension and a wide range of symptoms, including visual disturbances. This case highlights the critical role of ophthalmologists in identifying CVFs as a cause of unexplained progressive vision loss.MethodsWe present the case of a 45-year-old woman who developed progressive visual field loss over 15 years, ultimately resulting in blindness in one eye. Early neuroimaging and testing were normal despite symptoms of orthostatic headaches, photophobia, and hearing loss. Advanced imaging eventually identified a CVF at the T8 level. Surgical correction was performed, and the patient's clinical response was assessed.ResultsSurgical repair of the CVF led to clinical improvement, halting further progression of symptoms.ConclusionsCVFs should be considered in patients with unexplained visual disturbances, particularly when accompanied by symptoms of intracranial hypotension. Early suspicion and collaboration with neurologists and neuroradiologists are essential for timely diagnosis and intervention. Ophthalmologists play a pivotal role in guiding appropriate referrals, ensuring multidisciplinary care to prevent irreversible visual and systemic complications.","PeriodicalId":12000,"journal":{"name":"European Journal of Ophthalmology","volume":" ","pages":"11206721251321880"},"PeriodicalIF":1.4,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143623780","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

Causal effect analysis of the relationship between Alzheimer's diseas (AD) and wet age-related macular degeneration (wAMD).

IF 1.4 4区医学

European Journal of Ophthalmology Pub Date : 2025-03-02 DOI: 10.1177/11206721251322219

Weili Zhang, Qinying Huang, Jinying Li

{"title":"Causal effect analysis of the relationship between Alzheimer's diseas (AD) and wet age-related macular degeneration (wAMD).","authors":"Weili Zhang, Qinying Huang, Jinying Li","doi":"10.1177/11206721251322219","DOIUrl":"https://doi.org/10.1177/11206721251322219","url":null,"abstract":"Purpose: Alzheimer's disease (AD) and wet age-related macular degeneration (wAMD) are both prevalent degenerative diseases in the elderly population. However, whether AD is causally related to wAMD is unclear. A Mendelian randomization(MR) analysis was conducted to investigate the association between them.Methods: Single nucleotide polymorphisms (SNPs) involved in this study were acquired from the IEU Open Genome-wide association study (GWAS) database. As for AD (ID: finn-b-G6_ALZHEIMER), there were 3899 cases and 214,893 controls. For wAMD (ID:finn-b-WET_AMD), it contained 2114 cases and 206,601 controls. The inverse-variance weighted (IVW) method was performed as the major analysis, supplemented by sensitivity analyses and Steiger test.Results: The occurrence of wAMD was associated with decreased risk of AD (IVW, OR was 0.82 at 95%, Confidence interval (CI) of 0.77-0.88, p = 1.67E-09).Conclusions: Our findings demonstrated a potentially protective effect of AD against the development of wAMD. It promotes further investigation of interaction between AD and wAMD.","PeriodicalId":12000,"journal":{"name":"European Journal of Ophthalmology","volume":" ","pages":"11206721251322219"},"PeriodicalIF":1.4,"publicationDate":"2025-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143537015","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

Tilt and decentration of the crystalline lens in ultra-high myopia with cataract and its influencing factors: A study based on CASIA2'. 白内障超高度近视患者晶状体的倾斜和分散及其影响因素：基于 CASIA2 的研究"。

IF 1.4 4区医学

European Journal of Ophthalmology Pub Date : 2025-03-01 Epub Date: 2024-08-02 DOI: 10.1177/11206721241267028

Hui-Ying Zhao, Jing-Shang Zhang, Meng Li, Dong-Jun Chen, Xi Yang, Xiu-Hua Wan

{"title":"Tilt and decentration of the crystalline lens in ultra-high myopia with cataract and its influencing factors: A study based on CASIA2'.","authors":"Hui-Ying Zhao, Jing-Shang Zhang, Meng Li, Dong-Jun Chen, Xi Yang, Xiu-Hua Wan","doi":"10.1177/11206721241267028","DOIUrl":"10.1177/11206721241267028","url":null,"abstract":"Objective: This study aims to examine the characteristics and influencing factors of crystalline lens tilt and decentration in ultra-high myopic cataract patients, as measured by the CASIA2.Methods and analysis: 60 eyes scheduled for cataract surgery with an axial length (AL) ≥ 28 mm were included. The IOLMaster700 was utilized to measure AL and the white-to-white (WTW) distance. The CASIA2 was employed to measure front curvature radius (FCR), crystalline lens tilt, and crystalline lens decentration. The relationships between lens tilt, decentration, and related factors were evaluated.Results: The degree of lens tilt was 4.62 ± 2.44°, and the decentration was 0.20 (Q1 0.13, Q3 0.28) mm. Among the 60 eyes, 11 (18.3%) had a tilt ≥7°, and 6 (10%) had a decentratiolens tilt ≥7° (P = 0.038, P = 0.018). Eyes with AL >30.00 mm and FCR <8.45 mm had a higher degree of lens tilt. Additionally, a tilt ≥7° was associated with a greater decentration (P = 0.032), n.Conclusion: Preoperative crystalline lenses in eyes with ultra-high myopia and cataract exhibit certain degrees of tilt and decentration. An AL >30 mm is a risk factor for a lens tilt ≥7° and an decentration ≥0.4 mm. An FCR <8.45 mm is a risk factor for increased lens tilt, and a tilt ≥7° is a risk factor for increased lens decentrati ≥ 0.4 mm. An increase in AL and FCR <8.45 mm were risk factors for a and eyes with AL >30.00 mm had a higher degree of decentration (P = 0.005).","PeriodicalId":12000,"journal":{"name":"European Journal of Ophthalmology","volume":" ","pages":"524-530"},"PeriodicalIF":1.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141878576","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

Objective assessment of tear film in blepharospasm, facial hemispam and aberrant regeneration with periocular botulinum toxin-A. 用眼周肉毒杆菌毒素 A 客观评估眼睑痉挛、面部半球和异常再生的泪膜。

IF 1.4 4区医学

European Journal of Ophthalmology Pub Date : 2025-03-01 Epub Date: 2024-07-26 DOI: 10.1177/11206721241266008

Alicia Galindo-Ferreiro, Marta Fraile García, Silvana Schellini, Hortensia Sanchez-Tocino

{"title":"Objective assessment of tear film in blepharospasm, facial hemispam and aberrant regeneration with periocular botulinum toxin-A.","authors":"Alicia Galindo-Ferreiro, Marta Fraile García, Silvana Schellini, Hortensia Sanchez-Tocino","doi":"10.1177/11206721241266008","DOIUrl":"10.1177/11206721241266008","url":null,"abstract":"Purpose: Study the effect on the tear film in blepharospasm (BEB), facial hemispasm (FH), or aberrant regeneration (AR) treated with Botulinum Toxin (BTX-A).Methods: A prospective study was used to evaluate the tear film in patients with BEB, FH, or AR treated with BTX-A. Schirmer tests, break-up time (BUT), optical coherence tomography (OCT) meniscus measurement, the Ocular Surface Disease Index (OSDI) questionnaire, and Oxford scale were documented before; 1 month after; and 3 months after BTX-A treatment. Comparisons were made with the Friedman test and Wilcoxon matched-pairs signed rank test was used. A p-value <0.05 was considered statistically significant.Results: A total of 35 eyes from 27 patients were included. The mean patient age was 66.81 ± 12.94 years and 18 (66.7%) were female. Ten (37%) patients had BEB, six (22.2%) had FH, and 11 (40.74%) had AR. BTX-A improved the lid spasms. One month after BTX-A, Schirmer tests showed slight increments (Schirmer 1 p = 0.009; Schirmer 2 p = 0.05) and at 3 months they became similar to pre-treatment (p = 0.5). The BUT test was not significantly different at 1 month (p = 0.450) or at 3 months. On OCT 1 month after BTX-A, there was an increase in tear meniscus area (p = 0.004), height (p = 0.007), and depth (p = 0.004), and at 3 months the measurements also became similar to the pre-BTX-A values. No significant changes in the OSDI (p = 0.717) and Oxford scale (p = 0.255).Conclusion: OCT is a good tool to detect the increase in tear meniscus after periocular BTX-A in BEB, FH, and AR.","PeriodicalId":12000,"journal":{"name":"European Journal of Ophthalmology","volume":" ","pages":"722-726"},"PeriodicalIF":1.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141757911","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

Genetic association of diabetic retinopathy with long noncoding RNA CDKN2B-AS1 gene polymorphism. 糖尿病视网膜病变与长非编码 RNA CDKN2B-AS1 基因多态性的遗传关联

IF 1.4 4区医学

European Journal of Ophthalmology Pub Date : 2025-03-01 Epub Date: 2024-07-26 DOI: 10.1177/11206721241266704

Yen-Po Yao, Hsiang-Wen Chien, Kai Wang, Yi-Sun Yang, Shih-Chi Su, Lun-Ching Chang, Hung-Yu Lin, Shun-Fa Yang

{"title":"Genetic association of diabetic retinopathy with long noncoding RNA CDKN2B-AS1 gene polymorphism.","authors":"Yen-Po Yao, Hsiang-Wen Chien, Kai Wang, Yi-Sun Yang, Shih-Chi Su, Lun-Ching Chang, Hung-Yu Lin, Shun-Fa Yang","doi":"10.1177/11206721241266704","DOIUrl":"10.1177/11206721241266704","url":null,"abstract":"Aim: We attempted to test the influences of cyclin dependent kinase inhibitor 2B antisense RNA 1 (CDKN2B-AS1) gene polymorphisms on the susceptibility to Diabetic retinopathy (DR).Methods: Five single-nucleotide polymorphisms (SNPs) of the CDKN2B-AS1 gene, rs564398, rs1333048, rs1537373, rs2151280, and rs8181047 were examined in 280 DR cases and 455 DR-free diabetic controls.Results: Among these loci tested, we demonstrated that diabetic carriers of at least one polymorphic allele (G) of rs2151280 (AG and GG; AOR, 1.613; 95% CI, 1.040-2.501; p = 0.033) are more susceptible to proliferative DR but not non-proliferative DR. This genetic association with the risk of developing proliferative DR was further strengthened in homozygotes for the polymorphic allele (G) of rs2151280 (GG; AOR, 2.194; 95% CI, 1.117-4.308; p = 0.023). We detected a significant association of the polymorphic allele (G) of rs2151280 with proliferative DR patients (OR, 1.503; 95% CI, 1.112-2.033; p = 0.008) but not with the entire DR or non-proliferative DR group. Moreover, as compared to those who do not possess the polymorphic allele of rs2151280 (AA), DR patients carrying at least one polymorphic allele of rs2151280 (AG + GG) exhibited a lower glomerular filtration rate and HDL cholesterol level, revealing a promotive role of rs2151280 in renal and cardiovascular complications of diabetes.Conclusion: Taken together, our findings implicate an impact of CDKN2B-AS1 gene polymorphisms on the progression of DR.","PeriodicalId":12000,"journal":{"name":"European Journal of Ophthalmology","volume":" ","pages":"637-644"},"PeriodicalIF":1.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141757909","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

Pigmented paravenous retinochoroidal atrophy and retinitis pigmentosa-like phenotype in the same patient: A case series. 同一患者的色素性视网膜脉络膜萎缩和视网膜色素变性样表型：病例系列。

IF 1.4 4区医学

European Journal of Ophthalmology Pub Date : 2025-03-01 Epub Date: 2024-08-16 DOI: 10.1177/11206721241275730

Leonardo Colombo, Salvatore Martella, Roberta Rissotto, Simona Romano, Paolo Enrico Maltese, Gabriele Bonetti, Matteo Bertelli, Luca Rossetti

{"title":"Pigmented paravenous retinochoroidal atrophy and retinitis pigmentosa-like phenotype in the same patient: A case series.","authors":"Leonardo Colombo, Salvatore Martella, Roberta Rissotto, Simona Romano, Paolo Enrico Maltese, Gabriele Bonetti, Matteo Bertelli, Luca Rossetti","doi":"10.1177/11206721241275730","DOIUrl":"10.1177/11206721241275730","url":null,"abstract":"Introduction: Concomitant manifestation of PPRCA in one eye and RP-like retinopathy in the fellow eye is a rare clinical entity, with limited published descriptions to date. The aim of this study is to describe comprehensive clinical evaluations and long-term follow-up of three patients affected by this clinical picture.Methods: Three patients with concurrent PPRCA and RP-like retinopathy were prospectively re-evaluated and comprehensive assessments were performed. The progression of disease was assessed by comparing best corrected visual acuity (BCVA) and ellipsoid zone (EZ) width with data available from each patient's medical charts and previous SD-OCT scans. Blood samples were collected and tested to rule out autoimmune or infectious ocular diseases, for testing anti-retinal autoantibodies (ARAs) and for genetic analysis.Results: Reduction in BCVA and a progressive concentric loss of the EZ band over time were detected in the eye with RP-like phenotype in all three patients, while in the eye with PPRCA none of the patients showed significant changes in BCVA and only one patient showed a progressive reduction of the EZ width. No clear etiology has been identified. Two or more ARAs subtypes were detected in two out of three patients.Conclusions: PPRCA was demonstrated to be a non-progressive or slowly progressive disease, instead the eye with RP-like phenotype showed a progressive visual impairment, highlighting the importance of shedding light on this condition. Its etiology remains unclear: a genetic trait with different phenotype between the two eyes is conceivable, as well as a potential role of ARAs.","PeriodicalId":12000,"journal":{"name":"European Journal of Ophthalmology","volume":" ","pages":"695-704"},"PeriodicalIF":1.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141987701","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

Utilization of apple vision pro in ophthalmic surgery: A pilot study. 在眼科手术中使用苹果视觉软件：试点研究

IF 1.4 4区医学

European Journal of Ophthalmology Pub Date : 2025-03-01 Epub Date: 2024-08-14 DOI: 10.1177/11206721241273574

M Orione, G Rubegni, R Tartaro, A Alberghina, M Fallico, C Orione, A Russo, G M Tosi, T Avitabile

{"title":"Utilization of apple vision pro in ophthalmic surgery: A pilot study.","authors":"M Orione, G Rubegni, R Tartaro, A Alberghina, M Fallico, C Orione, A Russo, G M Tosi, T Avitabile","doi":"10.1177/11206721241273574","DOIUrl":"10.1177/11206721241273574","url":null,"abstract":"Purpose: This paper explores the application of Apple Vision Pro in ophthalmic surgery, assessing its potential benefits in providing real-time imaging overlay, surgical guidance, and collaborative opportunities.Materials and method: The device was worn by 10 ophthalmic surgeons during eyelid malposition surgery. All surgeons performed the entire surgery while wearing the visor. At the end of procedure, all operators had to rate Apple Vision Pro visor according to 10 specific item and system usability scale (SUS) questionnaire.Results: The surgeons used the Apple Vision Pro during the entire procedure, and the results were positive, with high ratings for practicality, freedom of movement, integration into workflow, and learning. All surgeons rated the Apple Vision Pro above 85/100 in the SUS.Conclusion: The incorporation of Apple Vision Pro in oculoplastic surgery offers several advantages, including improved visualization, enhanced precision, and streamlined communication among surgical teams. According to our preliminary results Apple Vision Pro could represents a valuable tool in ophthalmic surgery, with implications for enhancing surgical techniques and advancing XR research in the surgical field.","PeriodicalId":12000,"journal":{"name":"European Journal of Ophthalmology","volume":" ","pages":"715-721"},"PeriodicalIF":1.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141975370","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

CBL syndrome presenting with severe EBV infection and panuveitis masquerade. CBL综合征，表现为严重的EB病毒感染和泛葡萄膜炎假象。

IF 1.4 4区医学

European Journal of Ophthalmology Pub Date : 2025-03-01 Epub Date: 2024-11-27 DOI: 10.1177/11206721241302113

Stéphane Abramowicz, Inès Chabbi, Christine Fardeau, Sara Touhami, Bahram Bodaghi

{"title":"CBL syndrome presenting with severe EBV infection and panuveitis masquerade.","authors":"Stéphane Abramowicz, Inès Chabbi, Christine Fardeau, Sara Touhami, Bahram Bodaghi","doi":"10.1177/11206721241302113","DOIUrl":"10.1177/11206721241302113","url":null,"abstract":"Purpose: To describe a case of CBL syndrome presenting with life-threatening pediatric Epstein-Barr virus (EBV) infection and sight-threatening rod-cone dystrophy (RCD) masquerading as severe panuveitis.Methods: Single case report with results of whole-exome sequencing (WES) analysis in the proband and his parents. Data were collected from July 2009 to December 2022.Results: A 35-month-old boy presented with severe primary EBV infection complicated by encephalitis and hemophagocytic lymphohistiocytosis. The clinical picture abated with systemic corticosteroids. Genetic testing revealed a heterozygous germline pathogenic variant in the CBL gene c.1141T > G (p.Cys381Gly). At 6 years old, he developed a severe bilateral panuveitis requiring multiple lines of immunosuppressants, mostly to control refractory cystoid macular edema (CME). During follow-up, intraretinal pigment deposits and peripheral retinal atrophy started to appear. Full-field electroretinogram (ffERG) revealed a pattern consistent with RCD. Repeat WES targeting known inherited retinal disease (IRD) genes was negative. A diagnosis of CBL syndrome complicated by RCD masquerading as severe bilateral panuveitis was made, and CME treatment was switched to oral acetazolamide.Conclusions: CBL syndrome can present with severe EBV infection early in life. RCD masquerading as severe panuveitis is also a possible feature of CBL syndrome. RCD should be kept in mind in patients with this syndrome who present with idiopathic intraocular inflammation and are refractory to IMT. Carbonic anhydrase inhibitors (CAI) should be tried early to treat CME.","PeriodicalId":12000,"journal":{"name":"European Journal of Ophthalmology","volume":" ","pages":"NP1-NP7"},"PeriodicalIF":1.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142738811","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