Retinal Cases and Brief Reports最新文献_第10页

Severe Circulatory Disturbance in Optic Disc, Retina, and Choroid Following Sub-Tenon Triamcinolone Acetonide Injection for Posterior Scleritis. 瞳孔下注射曲安奈德（Triamcinolone Acetonide）治疗后巩膜炎后，视盘、视网膜和脉络膜出现严重循环障碍。

Retinal Cases and Brief Reports Pub Date : 2024-07-23 DOI: 10.1097/ICB.0000000000001642

Masahiro Akada, Yuki Muraoka, Satoshi Morooka, Kenji Ishihara, Masayuki Hata, Akitaka Tsujikawa

{"title":"Severe Circulatory Disturbance in Optic Disc, Retina, and Choroid Following Sub-Tenon Triamcinolone Acetonide Injection for Posterior Scleritis.","authors":"Masahiro Akada, Yuki Muraoka, Satoshi Morooka, Kenji Ishihara, Masayuki Hata, Akitaka Tsujikawa","doi":"10.1097/ICB.0000000000001642","DOIUrl":"10.1097/ICB.0000000000001642","url":null,"abstract":"Purpose: To report a rare case of optic disc and chorioretinal vascular occlusions in the right eye following sub-Tenon injection of triamcinolone acetonide (STTA) in an older male patient with scleritis and to discuss the associated risk factors and potential alternative therapies.Methods: The medical history and clinical examination, including fundoscopy, fluorescein angiography (FA), and indocyanine green angiography (ICGA), were conducted to diagnose and evaluate the extent of vascular occlusion after STTA. An extensive literature review was undertaken to ascertain the associated risks and consider other treatment options for scleritis.Results: Severe circulatory disturbances in the optic disc and chorioretinal regions of the right eye developed after STTA for exacerbated scleritis, as confirmed by FA and ICGA, resulting in a significant decrease in visual acuity. A complex medical history encompassing ophthalmic and systemic health issues may have contributed to this negative outcome. A literature review pointed out the potential complications of STTA and highlighted alternative approaches to scleritis management.Conclusions: Cautious application of STTA in treating scleritis is crucial, especially in patients with pre-existing vascular or ocular conditions. Thus, a multidisciplinary approach and a careful assessment of various treatment options are vital to minimize the risk of severe complications and improve patient outcomes.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141767988","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}

引用次数: 0

Ocular Sarcoidosis Masquerading as Acute Retinal Necrosis: Two Case Reports. 伪装成急性视网膜坏死的眼肉样瘤病：两个病例报告

Retinal Cases and Brief Reports Pub Date : 2024-07-19 DOI: 10.1097/ICB.0000000000001639

Hsin-Ming Liu, Yung-Jen Lai, Fang-Yi Chiu, Wei-Chun Chan

{"title":"Ocular Sarcoidosis Masquerading as Acute Retinal Necrosis: Two Case Reports.","authors":"Hsin-Ming Liu, Yung-Jen Lai, Fang-Yi Chiu, Wei-Chun Chan","doi":"10.1097/ICB.0000000000001639","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001639","url":null,"abstract":"Purpose: To report two cases of ocular sarcoidosis (OS) initially presenting as unilateral acute retinitis, which mimicked acute retinal necrosis.Methods: Retrospective descriptive case reports.Results: Two middle-aged healthy Asian women experienced progressive vision loss in their left eyes over a one-month period. Anterior uveitis, vitritis, and diffuse peripheral retinal infiltration were observed. Comprehensive diagnostic evaluations were conducted, including blood work-up, viral polymerase chain reaction of anterior chamber paracentesis samples, and chest X-ray, all yielding negative results. Despite prompt initiation of antiviral therapy, retinal infiltrations remained unchanged within the first 10 days. Chest CT imaging revealed multiple lymphadenopathies consistent with sarcoidosis. Case 1 was presumed OS, and case 2 was definite OS based on lung and lymph node biopsy results in accordance with the 2017 revised international workshop on OS (IWOS) criteria. In both cases, the retinal lesions gradually resolved after several weeks of systemic corticosteroids, and the best corrected vision of the affected eye improved to 20/25 at the 12 and 6-month follow-ups, respectively.Conclusion: Acute unilateral retinal infiltration in the peripheral region, exhibiting rapid progression resembling acute retinal necrosis, can be a rare manifestation of OS. Chest CT imaging can provide valuable assistance in the diagnostic process, especially when systemic examinations yield no significant findings.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141728293","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}

引用次数: 0

PUNCTATE INNER CHOROIDOPATHY FOLLOWING PARS PLANA VITRECTOMY FOR HIGH MYOPIC FULL THICKNESS MACULAR HOLE. 高度近视全厚黄斑孔玻璃体旁切除术后的点状内脉络膜病变。

Retinal Cases and Brief Reports Pub Date : 2024-07-19 DOI: 10.1097/ICB.0000000000001641

Alessandro Feo, Enrico Giacomotti, Francesco Santoru, Lorenzo Crepaldi, Daniele Criscuolo, Davide Allegrini, Mario R Romano

{"title":"PUNCTATE INNER CHOROIDOPATHY FOLLOWING PARS PLANA VITRECTOMY FOR HIGH MYOPIC FULL THICKNESS MACULAR HOLE.","authors":"Alessandro Feo, Enrico Giacomotti, Francesco Santoru, Lorenzo Crepaldi, Daniele Criscuolo, Davide Allegrini, Mario R Romano","doi":"10.1097/ICB.0000000000001641","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001641","url":null,"abstract":"Purpose: To describe a case of punctate inner choroidopathy (PIC) and secondary or epiphenomenon multiple evanescent white dot syndrome (EpiMEWDS) following surgery for high myopic full-thickness macular hole (FTMH).Methods: Case report.Results: A 57-year-old high myopic female was diagnosed with cataract and FTMH in the left eye. Her initial best-corrected visual acuity (BCVA) was 20/20 in her right eye and 20/80 in the left eye. She underwent routine combined phacoemulsification and 25-gauge pars plana vitrectomy (PPV) with the inverted internal limiting membrane (ILM) technique and twice-repeated epiretinal membrane (ERM) and ILM staining in the left eye. Two weeks postoperatively, the patient reported significant visual decline and photopsia in her left eye. BCVA decreased to counting fingers. Anterior segment examination was unremarkable. Ophthalmoscopic examination showed multiple whitish-yellow lesions in the macular region compatible with PIC lesions in the left eye. Optical coherence tomography (OCT), blue-light fundus autofluorescence (BAF), fluorescein angiography, and indocyanine green angiography were performed and confirmed the diagnosis. The patient underwent oral steroid therapy for PIC treatment. One week after treatment initiation, BAF showed the occurrence of EpiMEWDS. After one month, all lesions resolved and BCVA improved to 20/100.Conclusions: We report a rare case of PIC and EpiMEWDS development following surgery for FTMH. We hypothesize that several causes, including individual susceptibility (high myopia and female gender), post-surgical inflammation, and/or dye toxicity due to repeated staining could have amplified this inflammatory chorioretinal response. Larger studies are needed to better understand the potential triggers of PIC development after surgery.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141728294","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}

引用次数: 0

Bilateral Central serous chorioretinopathy in a case of surgically treated Optic Disc Pit maculopathy. 一例经手术治疗的视盘凹陷性黄斑病变患者的双侧中央浆液性脉络膜视网膜病变。

Retinal Cases and Brief Reports Pub Date : 2024-07-19 DOI: 10.1097/ICB.0000000000001630

Urvashi Kala, Ahana Sen, Bristi Majumdar, Pragya Shambhawi, Aarzoo Juneja, N Sai Divya, Ruchira Chowdhury, Kumar Saurabh, Rupak Roy

{"title":"Bilateral Central serous chorioretinopathy in a case of surgically treated Optic Disc Pit maculopathy.","authors":"Urvashi Kala, Ahana Sen, Bristi Majumdar, Pragya Shambhawi, Aarzoo Juneja, N Sai Divya, Ruchira Chowdhury, Kumar Saurabh, Rupak Roy","doi":"10.1097/ICB.0000000000001630","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001630","url":null,"abstract":"Purpose: To report occurrence of central serous chorioretinopathy(CSCR) which mimicked recurrence of ODP maculopathy in a young adult in whom surgery for the same had been done.Methods: Clinical fundus examination and multimodal imaging which included optical coherence tomography(OCT) and fundus autofluorescence(FFA) was done.Results: Patient had undergone surgery for ODP maculopathy. At 1 year follow up, there was recurrence of subretinal fluid at the macula. Fundus fluorescein angiography was done and the presence of ink blot pattern leakage clinched the diagnosis of CSCR, ruling out ODP maculopathy.Conclusion: CSCR is a great masquerade and correct diagnosis is very important to prevent permanent visual impairment. Subretinal fluid(SRF) associated with ODP must be examined carefully to rule out other pathologies like CSCR. Serous macular detachment after surgery for ODP maculopathy has been done, does not necessarily mean recurrence of the maculopathy. Other pathologies like CSCR should be ruled out. This case highlights the importance of multimodal imaging along with clinical signs in correct diagnosis and treatment of conditions with overlapping features like CSCR and ODP maculopathy.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141728287","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}

引用次数: 0

CHOROIDAL NEOVASCULARIZATION AS A LATE COMPLICATION OF SYPHILITIC CHORIORETINITIS MANAGED WITH INTRAVITREAL AFLIBERCEPT. 作为梅毒性脉络膜视网膜炎晚期并发症的脉络膜新生血管，使用玻璃体内阿弗利贝赛普进行治疗。

Retinal Cases and Brief Reports Pub Date : 2024-07-19 DOI: 10.1097/ICB.0000000000001638

Ana Paula Couto, Giovanna Provenzano, Raul N G Vianna

{"title":"CHOROIDAL NEOVASCULARIZATION AS A LATE COMPLICATION OF SYPHILITIC CHORIORETINITIS MANAGED WITH INTRAVITREAL AFLIBERCEPT.","authors":"Ana Paula Couto, Giovanna Provenzano, Raul N G Vianna","doi":"10.1097/ICB.0000000000001638","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001638","url":null,"abstract":"Purpose: To report a rare case of choroidal neovascular membrane (CNV) developed three years after acquired syphilitic chorioretinitis successfully treated with intravitreal aflibercept.Methods: Case report.Results: A 44-year-old woman with bilateral decreased vision and a history of syphilitic chorioretinitis 3 years prior to presentation. Her best-corrected visual acuity was <20/400 in the right eye and 20/70 in the left eye. There was no evidence of anterior chamber or vitreous inflammation. Fundoscopy revealed a fibrovascular macular lesion associated with hemorrhages in both eyes. Optical coherence tomography (OCT) and OCT angiography confirmed the diagnosis of bilateral CNV. After ruling out other systemic diseases, the diagnosis of CNV as a late complication of syphilitic chorioretinitis was established. Although treatment was not recommended in the right eye, the left eye was treated with 3 monthly intravitreal injections of aflibercept as a solo therapy. Three weeks after the last injection, the visual acuity improved to 20/25 and remained stable at the 6-month follow-up with no evidence of CNV reactivation.Conclusion: Choroidal neovascular membranes can occur as a late complication of syphilitic chorioretinitis. Solo treatment with intravitreal injections of the anti-vascular endothelial growth factor aflibercept effectively controlled CNV activity and improved visual acuity.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141728289","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}

引用次数: 0

Bilateral cystoid macular edema as the presenting feature of chronic myeloid leukemia. 双侧囊样黄斑水肿是慢性髓性白血病的表现特征。

Retinal Cases and Brief Reports Pub Date : 2024-07-19 DOI: 10.1097/ICB.0000000000001640

Ffion E Brown, Ahmed Al-Janabi, Kevin Gallagher

{"title":"Bilateral cystoid macular edema as the presenting feature of chronic myeloid leukemia.","authors":"Ffion E Brown, Ahmed Al-Janabi, Kevin Gallagher","doi":"10.1097/ICB.0000000000001640","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001640","url":null,"abstract":"Purpose: Ophthalmic disease may rarely be a presenting feature of chronic myeloid leukemia (CML).Methods: We report a case of a 53-year-old man with type 1 diabetes mellitus who presented with a rapid onset of bilateral blurred vision.Results: He was noted to have bilateral macular edema and was initially treated for presumed diabetic macular edema (DME) with intravitreal alifbercept injections. One month later, there was complete resolution of his macular edema. Review of his history and imaging revealed features atypical for DME, specifically; the rapid onset of bilateral blurred vision over 2-3 weeks, numerous cotton wool spots within the macula, the absence of any exudates, the symmetrical macular edema with a \"vaulted ceiling\" appearance (more typical of cystoid macular edema) and the dramatic response to a single intravitreal aflibercept injection. One week after his intravitreal injection, the patient was diagnosed with CML following marked leucocytosis on a routine blood test by his general practitioner. Although uncommon, sudden onset bilateral edema in the absence of other chronic diabetic changes should prompt consideration of an underlying haematological cause.Conclusion: This case highlights the importance of considering CML as a differential diagnosis in patients presenting with sudden onset, bilateral cystoid macular oedema. Vigilance is especially important in patients with co-existing diabetic retinopathy as the clinical features of leukemic retinopathy can overlap. Furthermore, the diagnosis of CML in a patient with diabetes mellitus should prompt extra observation for accelerated worsening of diabetic retinopathy.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141728288","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}

引用次数: 0

Uveal effusion in Waldenstrom's macroglobulinemia. 瓦尔登斯特罗姆巨球蛋白血症的葡萄膜渗出。

Retinal Cases and Brief Reports Pub Date : 2024-07-19 DOI: 10.1097/ICB.0000000000001631

Johanna Darmon, Mickael Anjou, Denis Georgelin, Antoine P Brezin, Dominique Bremond-Gignac

引用次数: 0

Combined 41- gauge surgically induced macular detachment and free internal limiting membrane flap technique for management of refractory full-thickness macular hole. 联合使用 41 号手术诱导黄斑脱离和游离内缘膜瓣技术治疗难治性全厚黄斑孔。

Retinal Cases and Brief Reports Pub Date : 2024-07-19 DOI: 10.1097/ICB.0000000000001637

Laura Di Leo, Beatrice Tombolini, Ilenia Gallo Afflitto, Andrea Vulpetti, Rino Frisina

{"title":"Combined 41- gauge surgically induced macular detachment and free internal limiting membrane flap technique for management of refractory full-thickness macular hole.","authors":"Laura Di Leo, Beatrice Tombolini, Ilenia Gallo Afflitto, Andrea Vulpetti, Rino Frisina","doi":"10.1097/ICB.0000000000001637","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001637","url":null,"abstract":"Purpose: To report a case of anatomic closure and functional improvement in a patient affected by refractory full-thickness macular hole (FTMH) undergone a combined 41-gauge (g) surgically induced macular detachment and free internal limiting membrane (ILM) flap technique.Methods: This is a retrospective case-report of a 70-years-olded woman affected by refractory FTMH who referred to Ophthalmology Unit of Guglielmo da Saliceto Hospital, Piacenza (Italy) in April 2023. The patient underwent a combined 41-g surgically induced macular detachment and free ILM flap. Macular detachment was induced by multiple subretinal injections of balanced salt solution (BSS) by 41-g needle through three retinotomies. Spectral-domain optical coherence tomography (SD-OCT) and best-corrected visual acuity (BCVA) were performed preoperatively and postoperatively at 7th day, 1st and 6th month.Results: On 7th postoperative day, FTMH showed complete closure. BCVA improved from preoperative 20/400 to 20/70 at 6th postoperative month.Discussion: BSS subretinal injection allowed the mobilization and relaxation of retina at the posterior pole. Although the edges of the hole were still detectable, their diameters were inferior to preoperative measurements. Autologous free ILM flap allowed to fill the residual gap into the hole.Conclusion: The final anatomic closure, and the postoperative functional improvement demonstrated the effectiveness of this approach, supporting its indication for refractory FTHM.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141728290","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}

引用次数: 0

Endoscopic Surgery for Congenital or Acquired Cataract Associated with Persistent Fetal Vasculature: A Case Series. 内窥镜手术治疗与胎儿血管持续存在有关的先天性或后天性白内障：病例系列。

Retinal Cases and Brief Reports Pub Date : 2024-07-19 DOI: 10.1097/ICB.0000000000001634

Mitsuru Otsubo, Tatsushi Kaga, Yoshimi Yokoyama, Takashi Kojima

{"title":"Endoscopic Surgery for Congenital or Acquired Cataract Associated with Persistent Fetal Vasculature: A Case Series.","authors":"Mitsuru Otsubo, Tatsushi Kaga, Yoshimi Yokoyama, Takashi Kojima","doi":"10.1097/ICB.0000000000001634","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001634","url":null,"abstract":"Purpose: Persistent fetal vasculature (PFV) is a congenital malformation caused by a failure in regression of the primary vitreous and hyaloid vessels. An abnormal PFV occurs in the anterior and posterior segments of the eye. Surgery for PFV carries the risk of retinal detachment. We report four cases of cataracts associated with PFV, in which our novel surgical technique with an intraocular endoscope was safely performed.Methods: Lensectomy and vitrectomy were performed in cases 1, 3, and 4, while lensectomy, vitrectomy, and intraocular lens implantation using an endoscope were performed in case 2. In all cases, after lens removal, a slit at the posterior lens capsule was created to avoid the retrolental fibrovascular membrane using underwater electric coagulation. Moreover, the endoscope was inserted, by which the intraocular region was observed to determine the treatment method for the fibrovascular membrane and vitreous stalk. No additional surgeries were required for complications before or after any of the surgeries.Results: Using an endoscope during cataract surgery associated with PFV, observing the vitreous stalk at high magnification and ensuring safe treatment were possible.Conclusions: Endoscopic surgery could be considered an effective method for treating PFV-associated cataracts.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141728291","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}

引用次数: 0

Intermediate uveitis in common variable immunodeficiency (CVID) associated with a heterozygous variant in the TNFRSF13B gene. 与 TNFRSF13B 基因杂合子变异有关的常见变异性免疫缺陷症（CVID）中级葡萄膜炎。

Retinal Cases and Brief Reports Pub Date : 2024-07-19 DOI: 10.1097/ICB.0000000000001632

Mathijs Osaer, Wim Terryn, Elfride De Baere, Ciel De Vriendt, Filomeen Haerynck, Tessa Kerre, Elke O Kreps

{"title":"Intermediate uveitis in common variable immunodeficiency (CVID) associated with a heterozygous variant in the TNFRSF13B gene.","authors":"Mathijs Osaer, Wim Terryn, Elfride De Baere, Ciel De Vriendt, Filomeen Haerynck, Tessa Kerre, Elke O Kreps","doi":"10.1097/ICB.0000000000001632","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001632","url":null,"abstract":"Purpose: To report on a rare case of intermediate uveitis occurring in a patient with common variable immunodeficiency (CVID) and a heterozygous TNFRSF13B variant.Methods: Observational case report.Results: A 23-year-old male presented with a 3-month history of increasing floaters and blurred vision to both eyes. He had been treated with topical and intravitreal corticosteroids by his local ophthalmologist nine months before. Ocular examination demonstrated bilateral intermediate uveitis with retinal vasculitis. He had been treated with intravenous immunoglobulins during childhood, due to primary humoral immunodeficiency. Systemic work-up for other causes of intermediate uveitis was unremarkable, notably no features of systemic sarcoid-like disease were detected. Initial treatment with mycophenolate mofetil showed insufficient response, and upon switching to adalimumab, clinical remission was achieved. Immunocytometry and genetic work-up revealed a smB+CD21norm subtype of CVID and a heterozygous TNFRSF13B variant.Conclusion: This report of CVID-associated intermediate uveitis in a patient with a heterozygous TNFRSF13B variant highlights the potential involvement of the eye within CVID-associated autoimmunity and the role for anti-TNF blockade in this challenging group of patients.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141728292","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}

引用次数: 0