Retinal Cases and Brief Reports最新文献

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RADIATION RETINOPATHY AND BENIGN LYMPHOPROLIFERATIVE ORBITAL TUMOR PRESENTING 47 YEARS AFTER TREATMENT OF HEREDITARY RETINOBLASTOMA. 遗传性视网膜母细胞瘤治疗后47年的放射性视网膜病变和良性淋巴增生性眼眶肿瘤。
Retinal Cases and Brief Reports Pub Date : 2025-01-01 DOI: 10.1097/ICB.0000000000001521
Mohammad Amr Sabbagh, Monique P Munro, William F Mieler
{"title":"RADIATION RETINOPATHY AND BENIGN LYMPHOPROLIFERATIVE ORBITAL TUMOR PRESENTING 47 YEARS AFTER TREATMENT OF HEREDITARY RETINOBLASTOMA.","authors":"Mohammad Amr Sabbagh, Monique P Munro, William F Mieler","doi":"10.1097/ICB.0000000000001521","DOIUrl":"10.1097/ICB.0000000000001521","url":null,"abstract":"<p><strong>Purpose: </strong>The objective of this study was to better understand the onset of radiation retinopathy and secondary orbital tumors in the setting of retinoblastoma treated with radiation and chemotherapy.</p><p><strong>Methods: </strong>This was a case report.</p><p><strong>Results: </strong>Here, the authors present a 48-year-old woman with a history of bilateral hereditary retinoblastoma after enucleation of the left eye and radiation therapy to the right eye along with systemic chemotherapy. She underwent bladder leiomyosarcoma resection at the age of 24 years. In 2020, she presented with significantly delayed radiation retinopathy complicated by cystoid macular edema, and bevacizumab injections were initiated. An incidental benign lymphoproliferative tumor in the right lacrimal gland was found on B-scan ultrasound and was successfully excised.</p><p><strong>Conclusion: </strong>It is rare for radiation retinopathy to present with significant delay after local radiation treatment, with only two other cases found in the literature describing a similar late onset. In addition, there have been no other published cases of a secondary benign lymphoproliferative tumor in the setting of retinoblastoma treated with radiation and chemotherapy.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"19-22"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138500134","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
UNILATERAL MACULAR HOLE IN A PATIENT WITH RETINITIS PIGMENTOSA TREATED WITH COVER FLAP TECHNIQUE WITH THE USE OF PLATELET-RICH PLASMA UNDER AIR TAMPONADE. 一例色素性视网膜炎患者的单侧黄斑孔,采用皮瓣技术,在空气填塞下使用富含血小板的血浆进行治疗:病例报告。
Retinal Cases and Brief Reports Pub Date : 2025-01-01 Epub Date: 2024-12-13 DOI: 10.1097/ICB.0000000000001491
Gregorio Lo Giudice, Amedeo Alessandria, Aurelio Imburgia, Marco Anastasi, Viviana Randazzo, Filippo Masaniello, Antonino Pioppo
{"title":"UNILATERAL MACULAR HOLE IN A PATIENT WITH RETINITIS PIGMENTOSA TREATED WITH COVER FLAP TECHNIQUE WITH THE USE OF PLATELET-RICH PLASMA UNDER AIR TAMPONADE.","authors":"Gregorio Lo Giudice, Amedeo Alessandria, Aurelio Imburgia, Marco Anastasi, Viviana Randazzo, Filippo Masaniello, Antonino Pioppo","doi":"10.1097/ICB.0000000000001491","DOIUrl":"10.1097/ICB.0000000000001491","url":null,"abstract":"<p><strong>Purpose: </strong>The purpose of the study is to show the excellent anatomical result of the inverted flap-assisted technique with platelet-rich plasma under air for retinitis pigmentosa complicated with macular hole.</p><p><strong>Methods: </strong>A 32-year-old woman, previously diagnosed with retinitis pigmentosa, was referred to our department complaining of decreased central vision in her left eye for 4 weeks. At the time of presentation, the optical coherence tomography and fundoscopy examination showed the presence of a macular hole of 620 μ m in diameter. The closure of the macular hole was observed after the surgical procedure, but endophthalmitis occurred 5 days, postoperatively.</p><p><strong>Results: </strong>In our presented case, the cover flap-assisted technique with platelet-rich plasma under air for retinitis pigmentosa complicated with macular hole resulted in excellent anatomical outcomes with unremarkable visual recovery.</p><p><strong>Conclusion: </strong>The physiopathology of full-thickness macular holes in retinitis pigmentosa patients remains still not fully elucidated. Pars plana vitrectomy with the adjunct of highly concentrated pure platelet-rich plasma have shown successful results.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"84-90"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11649180/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41172209","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
IRIS NODULES SECONDARY TO RETAINED PERFLUORO-N-OCTANE IN THE ANTERIOR CHAMBER AFTER MACULA-OFF RHEGMATOGENOUS RETINAL DETACHMENT REPAIR. 黄斑脱离孔源性视网膜脱离修复术后前房内残留PFO继发虹膜结节。
Retinal Cases and Brief Reports Pub Date : 2025-01-01 Epub Date: 2024-12-13 DOI: 10.1097/ICB.0000000000001487
Jessica J Waninger, Bernadete Ayres, Kanishka Jayasundera, Hakan Demirci
{"title":"IRIS NODULES SECONDARY TO RETAINED PERFLUORO-N-OCTANE IN THE ANTERIOR CHAMBER AFTER MACULA-OFF RHEGMATOGENOUS RETINAL DETACHMENT REPAIR.","authors":"Jessica J Waninger, Bernadete Ayres, Kanishka Jayasundera, Hakan Demirci","doi":"10.1097/ICB.0000000000001487","DOIUrl":"10.1097/ICB.0000000000001487","url":null,"abstract":"<p><strong>Purpose: </strong>To describe a case of perfluoro-n-octane (PFO) retention, migration into the anterior chamber, and the subsequent formation of iris nodules after the repair of a giant retinal tear.</p><p><strong>Methods: </strong>Patient data were collected by a manual chart review. All patient information was deidentified.</p><p><strong>Results: </strong>Slit-lamp photographs demonstrate nodules on the iris surface and retained PFO in the anterior chamber. Ultrasound biomicroscopy shows multifocal hyperreflective signals on the iris surface, corresponding to the retained PFO within the iris.</p><p><strong>Conclusion: </strong>Retention and migration of PFO to the anterior chamber after retinal detachment repair can lead to formation of nodules on the surface of the iris.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"74-76"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41219922","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
IATROGENIC MACULAR HOLE BECAUSE OF NEODYMIUM:YTTRIUM-ALUMINUM-GARNET-SELECTIVE LASER TRABECULOPLASTY LASER: CASE REPORT AND MANAGEMENT. Nd:YAG-SLT激光致医源性黄斑孔1例报告及处理:Nd:YAG-SLT激光医源性黄斑孔。
Retinal Cases and Brief Reports Pub Date : 2025-01-01 DOI: 10.1097/ICB.0000000000001517
Zara Saleem, Drew Scoles, Antonio Capone, Tamer H Mahmoud
{"title":"IATROGENIC MACULAR HOLE BECAUSE OF NEODYMIUM:YTTRIUM-ALUMINUM-GARNET-SELECTIVE LASER TRABECULOPLASTY LASER: CASE REPORT AND MANAGEMENT.","authors":"Zara Saleem, Drew Scoles, Antonio Capone, Tamer H Mahmoud","doi":"10.1097/ICB.0000000000001517","DOIUrl":"10.1097/ICB.0000000000001517","url":null,"abstract":"<p><strong>Purpose: </strong>To report a case of a patient who suffered a full-thickness macular hole because of the accidental utilization of the selective laser trabeculoplasty mode of a dual mode laser.</p><p><strong>Method: </strong>Case report.</p><p><strong>Results: </strong>A 69-year-old woman experienced vision loss in her left eye immediately after undergoing attempted neodymium:yttrium-aluminum-garnet capsulotomy using a neodymium:yttrium-aluminum-garnet-selective laser trabeculoplasty laser system. Postinjury visual acuity was 20/25 and 20/800 in the right and left eyes, respectively. Ophthalmic examination and multimodal imaging revealed multiple macular hemorrhages and an irregular full-thickness macular hole. The patient required multiple surgeries including an autologous retinal transplant to achieve hole closure.</p><p><strong>Conclusion: </strong>Macular hole formation is a devastating consequence of inadvertent use of the selective laser trabeculoplasty mode when performing a neodymium:yttrium-aluminum-garnet laser capsulotomy with a neodymium:yttrium-aluminum-garnet-selective laser trabeculoplasty laser system. The authors emphasize the importance of ensuring the correct mode is selected for treatment to minimize the risk of retinal damage and permanent vision loss.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"91-94"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138453027","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
BEST1 VARIANT ASSOCIATED WITH AN ATYPICAL MACULAR AND PERIPHERAL RETINAL PHENOTYPE. Best1变异与非典型黄斑和周围视网膜表型相关。
Retinal Cases and Brief Reports Pub Date : 2025-01-01 Epub Date: 2023-12-05 DOI: 10.1097/ICB.0000000000001520
Srinidhi Singuri, Meghan J DeBenedictis, Elias I Traboulsi, Alex Yuan, Rebecca M Schur
{"title":"BEST1 VARIANT ASSOCIATED WITH AN ATYPICAL MACULAR AND PERIPHERAL RETINAL PHENOTYPE.","authors":"Srinidhi Singuri, Meghan J DeBenedictis, Elias I Traboulsi, Alex Yuan, Rebecca M Schur","doi":"10.1097/ICB.0000000000001520","DOIUrl":"10.1097/ICB.0000000000001520","url":null,"abstract":"<p><strong>Purpose: </strong>Best vitelliform macular dystrophy is an inherited macular dystrophy associated with over 250 pathogenic variants of the Bestrophin-1 ( BEST1 ) gene. Although several types of lesions of best vitelliform macular dystrophy are well-described, reports of phenotypic variations associated with rare genetic variants are limited.</p><p><strong>Methods: </strong>This was a retrospective case series performed in 2021 at a tertiary eye care center.</p><p><strong>Patients: </strong>Three members of one family referred to a tertiary eye care clinic for evaluation of their autosomal dominant macular dystrophy.</p><p><strong>Results: </strong>Study subjects presented with atypical findings of peripheral schisis-like lesions and atrophy with abnormal electroretinogram in addition to typical macular lesions found in best vitelliform macular dystrophy. Genetic analyses identified a heterozygous BEST1 c.227T>A, p.(Ile76Asn) pathogenic variant in all three subjects.</p><p><strong>Conclusion: </strong>This study represents the first report of the phenotype associated with the c.227T>A, p.(Ile76Asn) BEST1 variant, which-while mentioned twice in the literature-has not been previously described. The phenotype is unique, comprising features of typical best vitelliform macular dystrophy with electroretinogram and peripheral findings, suggestive of a panretinal dysfunction.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":"19 1","pages":"129-134"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11150326/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142856796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A NOVEL FINDING IN THE DIAGNOSIS OF PRIMARY VITREORETINAL LYMPHOMA: A CASE REPORT. 诊断原发性玻璃体视网膜淋巴瘤的新发现:一例报告。
Retinal Cases and Brief Reports Pub Date : 2025-01-01 Epub Date: 2023-10-09 DOI: 10.1097/ICB.0000000000001489
Arash Maleki
{"title":"A NOVEL FINDING IN THE DIAGNOSIS OF PRIMARY VITREORETINAL LYMPHOMA: A CASE REPORT.","authors":"Arash Maleki","doi":"10.1097/ICB.0000000000001489","DOIUrl":"10.1097/ICB.0000000000001489","url":null,"abstract":"<p><strong>Purpose: </strong>Introduce a unique case of primary vitreoretinal lymphoma with a new optical coherence tomography finding.</p><p><strong>Methods: </strong>A case report. A 67-year-old healthy man with complaints of blurry vision in his right eye.</p><p><strong>Results: </strong>The patient's visual acuity was 20/60 and 20/20 in the right and left eyes, respectively. Anterior segment examination of the right eye demonstrated mild inflammation. Dilated fundoscopy revealed 2+ vitreous haze and 4+ disk edema. Optical coherence tomography of the macula in the right eye revealed optic nerve head swelling and thickening of the retina. Fluorescein angiography demonstrated mild leakage and staining of vessels along the inferotemporal arcade in the right eye. Labs were within normal limits except positive Herpes simplex virus 1 IgG. Initially, the patient was treated for herpetic panuveitis for 3 weeks with a favorable response. However, the clinical condition deteriorated as a new abnormality was identified in the macular region of the right eye through optical coherence tomography. Considering intraocular lymphoma as a potential diagnosis, the patient underwent a diagnostic vitrectomy. The vitreous sample analysis confirmed primary vitreoretinal lymphoma through immunohistochemistry and flow cytometry. The patient exhibited a rapid response after the initiation of intravenous and intravitreal methotrexate treatment.</p><p><strong>Conclusion: </strong>The presence of subretinal fluid accompanied by suspended hyperreflective lesions originating from the roof of the subretinal fluid pocket on the optical coherence tomography of macula \"stalactite sign\" may serve as a characteristic sign indicative of primary vitreoretinal lymphoma; however, further investigation using robust studies is necessary to examine this hypothesis.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"28-33"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41219920","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
UNVEILING THE HIDDEN: EARLY MANIFESTATIONS OF EXTENSIVE MACULAR ATROPHY WITH PSEUDODRUSEN-LIKE APPEARANCE. 揭开隐藏:广泛性黄斑萎缩的早期表现,具有假核果样外观。
Retinal Cases and Brief Reports Pub Date : 2025-01-01 DOI: 10.1097/ICB.0000000000001513
Francesco Romano, Mariano Cozzi, Stefano Casati, Francesca Bosello, Chiara Zaffalon, Andrea Trinco, Marco Pellegrini, Alessandro Invernizzi, Giovanni Staurenghi, Anna Paola Salvetti
{"title":"UNVEILING THE HIDDEN: EARLY MANIFESTATIONS OF EXTENSIVE MACULAR ATROPHY WITH PSEUDODRUSEN-LIKE APPEARANCE.","authors":"Francesco Romano, Mariano Cozzi, Stefano Casati, Francesca Bosello, Chiara Zaffalon, Andrea Trinco, Marco Pellegrini, Alessandro Invernizzi, Giovanni Staurenghi, Anna Paola Salvetti","doi":"10.1097/ICB.0000000000001513","DOIUrl":"10.1097/ICB.0000000000001513","url":null,"abstract":"<p><strong>Purpose: </strong>To describe novel microperimetry and imaging findings in two patients affected by extensive macular atrophy with pseudodrusen-like appearance without signs of retinal pigment epithelium atrophy.</p><p><strong>Methods: </strong>Case series. Both patients underwent mesopic and dark-adapted two-color scotopic microperimetry, followed by multimodal imaging assessment including ultra-widefield photography, fundus autofluorescence, high-resolution optical coherence tomography, optical coherence tomography angiography, and high-magnification module.</p><p><strong>Results: </strong>Albeit normal visual acuity, both patients had a significant reduction of retinal sensitivity-especially under scotopic cyan conditions. One patient had macular pigment abnormalities, whereas the combination of blue and near-infrared autofluorescence modalities highlighted different patterns of pseudodrusen-like lesions.Of notice, high-resolution optical coherence tomography revealed a marked separation between the retinal pigment epithelium and Bruch membrane, containing a hyperreflective material with two different reflectivities. Optical coherence tomography angiography excluded the presence of macular neovascularization and documented several choriocapillaris flow voids. High-magnification module images showed severe alteration of photoreceptors' mosaic in the perifovea.</p><p><strong>Conclusion: </strong>Our comprehensive assessment of two stage 1 extensive macular atrophy with pseudodrusen-like appearance patients revealed a predominant damage of perifoveal rods over areas of retinal pigment epithelium-Bruch membrane separation. These findings underscore the importance of basal laminar deposits in the initial stages of extensive macular atrophy with pseudodrusen-like appearance, contributing to a deeper understanding of its underlying mechanisms.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"119-124"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71429139","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
BELZUTIFAN FOR TREATMENT OF GIANT RETINAL HEMANGIOBLASTOMA WITH EXTRASCLERAL EXTENSION ASSOCIATED WITH VON HIPPEL-LINDAU SYNDROME. 贝尔祖替芬治疗伴希佩尔-林道综合征的巨大视网膜血管母细胞瘤。
Retinal Cases and Brief Reports Pub Date : 2025-01-01 Epub Date: 2024-12-13 DOI: 10.1097/ICB.0000000000001516
Caroline C Cotton, Anirudha S Chandrabhatla, Patrick H Andrews, Benjamin W Purrow, Yevgeniy Eugene Shildkrot
{"title":"BELZUTIFAN FOR TREATMENT OF GIANT RETINAL HEMANGIOBLASTOMA WITH EXTRASCLERAL EXTENSION ASSOCIATED WITH VON HIPPEL-LINDAU SYNDROME.","authors":"Caroline C Cotton, Anirudha S Chandrabhatla, Patrick H Andrews, Benjamin W Purrow, Yevgeniy Eugene Shildkrot","doi":"10.1097/ICB.0000000000001516","DOIUrl":"10.1097/ICB.0000000000001516","url":null,"abstract":"<p><strong>Purpose: </strong>To describe the clinical response and safety profile of the novel HIF-2ɑ inhibitor belzutifan in treating a giant retinal hemangioblastoma with extrascleral extension associated with von Hippel-Lindau syndrome.</p><p><strong>Methods: </strong>A 71-year-old woman with Von Hippel-Lindau syndrome presented with a giant retinal hemangioblastoma with extrascleral extension in her only remaining eye. She had no light perception in the right eye and intraocular pressure was 48. She requested enucleation because of chronic pain, but because of concern for significant bleeding given the size of the neoplasm, a trial of belzutifan was initiated.</p><p><strong>Results: </strong>Within 3 months of treatment initiation, the patient reported an 80% reduction in pain. Magnetic resonance imaging showed 30% reduction in longest tumor diameter. Dose adjustments were guided by serum hemoglobin levels, allowing the patient to remain on the medication for over a year with continued tumor regression on MRI and avoid enucleation.</p><p><strong>Conclusion: </strong>Retinal hemangioblastoma with extrascleral extension is exceedingly rare and its treatment is complex, often requiring enucleation or external beam radiotherapy. This report demonstrates the use of belzutifan to safely and successfully reduce ocular tumor burden of complicated retinal hemangioblastoma with extrascleral extension, ultimately decreasing the need for enucleation.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"66-69"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11649176/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136400291","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
FAMILIAL EXUDATIVE VITREORETINOPATHY WITH NASAL RETINAL INVOLVEMENT: A RARE PRESENTATION. 家族性渗出性玻璃体视网膜病变(FEVR)伴鼻视网膜受累:罕见表现。
Retinal Cases and Brief Reports Pub Date : 2025-01-01 Epub Date: 2024-12-13 DOI: 10.1097/ICB.0000000000001511
Amelia Cooper, Henry Stevens, Ivan Batlle
{"title":"FAMILIAL EXUDATIVE VITREORETINOPATHY WITH NASAL RETINAL INVOLVEMENT: A RARE PRESENTATION.","authors":"Amelia Cooper, Henry Stevens, Ivan Batlle","doi":"10.1097/ICB.0000000000001511","DOIUrl":"10.1097/ICB.0000000000001511","url":null,"abstract":"<p><strong>Purpose: </strong>To present a case of familial exudative vitreoretinopathy with nasal retinal involvement and aim to describe the clinical presentation, diagnostic findings, management strategies, and genetic testing.</p><p><strong>Methods: </strong>An evaluation of a 31-year-old female patient with familial exudative vitreoretinopathy presenting with predominate nasal retinal involvement. Diagnostic tests-including fundus examination, optical coherence tomography, fluorescein angiography, and genetic testing-were performed. The patient's management involved intravitreal injection of 1.25 mg/0.05 mL of bevacizumab in the left eye and sectoral panretinal photocoagulation in both eyes.</p><p><strong>Results: </strong>The patient exhibited discrete neovascularization and tortuosity predominantly localized to the nasal retinal blood vessels. Optical coherence tomography imaging showed macular schisis and vitreomacular traction without retinal detachment. Genetic testing identified a likely pathogenic variant associated with autosomal dominant and recessive exudative vitreoretinopathy. Treatment with bevacizumab and panretinal photocoagulation resulted in regression of neovascularization and improvement in macular schisis. Conclusion: This case report highlights an atypical presentation of familial exudative vitreoretinopathy with nasal retinal involvement. Early recognition and genetic testing aids in diagnosis and management.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"107-111"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11649170/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71488881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
SCLEROMYXEDEMA ASSOCIATED WITH MACULAR EDEMA AND RETINAL HEMORRHAGE. 与黄斑水肿和视网膜出血相关的硬化性水肿。
Retinal Cases and Brief Reports Pub Date : 2025-01-01 DOI: 10.1097/ICB.0000000000001510
Keirnan L Willett, Nneka Comfere, Sophie J Bakri
{"title":"SCLEROMYXEDEMA ASSOCIATED WITH MACULAR EDEMA AND RETINAL HEMORRHAGE.","authors":"Keirnan L Willett, Nneka Comfere, Sophie J Bakri","doi":"10.1097/ICB.0000000000001510","DOIUrl":"10.1097/ICB.0000000000001510","url":null,"abstract":"<p><strong>Purpose: </strong>We discuss a case of macular edema and retinal hemorrhage associated with scleromyxedema.</p><p><strong>Methods: </strong>A case report is presented.</p><p><strong>Results: </strong>A 64-year-old man with history of deep vein thrombosis and pulmonary embolism presented with new-onset rash in the setting of switching anticoagulation treatments. He developed blurred vision, was found to have macular edema and dot blot retinal hemorrhages that improved with systemic and topical corticosteroids.</p><p><strong>Conclusion: </strong>Systemic autoimmune conditions including scleromyxedema should be considered in the workup of occult cystoid macular edema.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"104-106"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71429137","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
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