Retinal Cases and Brief Reports最新文献_第3页

Retinal Racemosal Hemangioma Associated with Intracranial Vascular Malformation (Wyburn -Mason Syndrome) - Case Report. 视网膜外消旋膜血管瘤合并颅内血管畸形（Wyburn - mason综合征）- 1例报告。

Retinal Cases and Brief Reports Pub Date : 2024-12-11 DOI: 10.1097/ICB.0000000000001696

Susan D Arredondo-Cardona, Natalia Contreras-Duque, Alexander M Martínez-Blanco, Francisco J Bonilla-Escobar

{"title":"Retinal Racemosal Hemangioma Associated with Intracranial Vascular Malformation (Wyburn -Mason Syndrome) - Case Report.","authors":"Susan D Arredondo-Cardona, Natalia Contreras-Duque, Alexander M Martínez-Blanco, Francisco J Bonilla-Escobar","doi":"10.1097/ICB.0000000000001696","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001696","url":null,"abstract":"Purpose: To describe a case of Wyburn-Mason syndrome in a young child with initially declined treatment leading to delayed intervention.Methodology: Case report.Results: We report a 6-year-old boy with mild periocular trauma following a fall, who was incidentally found to have a retinal arteriovenous malformation (AVM) associated with a brain AVM, indicative of Wyburn-Mason Syndrome. The patient's visual exam was unremarkable except for a visual acuity of 20/150 in the right eye, corrected to 20/60, and 20/30 in the left eye, along with mild proptosis and facial asymmetry. Radiosurgical management was proposed but declined by the caregivers due to fear of complications. Eighteen months later, the patient presented with neurological deterioration, manifesting as left hemiparesis. The patient received antiangiogenic therapy with sirolimus (inhibitor of the mammalian target of rapamycin, mTOR) and underwent a catheter-based embolization procedure that partially occluded the brain AVM without complications. The patient showed partial recovery of strength but experienced a deterioration in visual acuity in the right eye to 20/400.Conclusion: This report highlights an extremely rare malformation that associates ocular and cerebral vascular malformations. It underscores the importance of correlating various signs and symptoms to suspect it and emphasizes the need for adherence and follow-up.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142820065","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

Vitreous Cytokine Profile in an Eye with a Vasoproliferative Tumor. 血管增殖性肿瘤眼玻璃体细胞因子分析。

Retinal Cases and Brief Reports Pub Date : 2024-12-09 DOI: 10.1097/ICB.0000000000001705

Lucy V Cobbs, Alexis Kaiser, Rusdeep Mundae, Carol L Shields, Kenneth J Wald, Yasha Modi

{"title":"Vitreous Cytokine Profile in an Eye with a Vasoproliferative Tumor.","authors":"Lucy V Cobbs, Alexis Kaiser, Rusdeep Mundae, Carol L Shields, Kenneth J Wald, Yasha Modi","doi":"10.1097/ICB.0000000000001705","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001705","url":null,"abstract":"Purpose: We present a patient with a primary vasoproliferative tumor (VPT) accompanied by vitreous haze and an epiretinal membrane (ERM). We report for the first time the vitreous cytokine profile from an eye with a primary VPT to explore the relationship between intraocular inflammation and these tumors.Methods: Retrospective chart review of a single patient case.Results: 25-gauge pars plana vitrectomy with membrane peel and vitreous biopsy was performed. Peripheral vitreous shave exposed an inferior grey-red mass located at the ora serrata, consistent with VPT. Treatment with confluent, long duration endolaser was performed. Vitreous cytology was negative for malignancy. A 13-cytokine panel (Associated Regional and University Pathologists, Inc. Laboratories, Salt Lake City, UT) revealed elevated interleukin 6 (13.3 pg/mL; normal <=2.0) and interleukin 8 (6.0 pg/mL; normal <=3.0). At one month post-operative, visual acuity improved from 20/40 to 20/25 OD, with mild anterior vitreous inflammation and regression of the VPT.Conclusion: Pro-inflammatory and pro-angiogenic cytokines were elevated in the vitreous of this patient's eye with a primary VPT. We suggest that the endothelial cells and macrophages which comprise VPTs could secrete these cytokines into the vitreous, resulting in vitreous haze and an overzealous fibrotic response manifested as ERM formation.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142814901","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

Long-term Follow Up of a Complex Case of Foldable Capsular Vitreous Bag Implantation. 1例复杂折叠囊玻璃体囊植入术的长期随访。

Retinal Cases and Brief Reports Pub Date : 2024-12-03 DOI: 10.1097/ICB.0000000000001686

Louise Christou, Sarah E Coupland, Guy Hunter, Rumana Hussain

{"title":"Long-term Follow Up of a Complex Case of Foldable Capsular Vitreous Bag Implantation.","authors":"Louise Christou, Sarah E Coupland, Guy Hunter, Rumana Hussain","doi":"10.1097/ICB.0000000000001686","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001686","url":null,"abstract":"Purpose: The Foldable Capsular Vitreous Bag (FCVB) implant is useful in maintaining ocular structure in cases of chronic hypotony secondary to trauma or repeated surgery. There are few published reports of long-term outcomes and no indication of the chronic cellular changes of the adjacent tissues associated with FCVB implantation. We describe one of few FCVB cases in the UK and present histological findings associated with it following secondary enucleation.Methods: A 33-year-old man underwent a left primary globe repair following a left penetrating injury and intraocular metal foreign body secondary to a close-range blast injury. Postoperatively, a retinal detachment was detected and a left vitrectomy with lensectomy, retinectomy and silicone oil (SO) insertion was performed. Subsequently, pupillary prolene sutures were used to create a two-chamber eye. Despite this, hypotony, SO in the anterior chamber and upper limb deep vein thromboses (DVTs) occurred postoperatively. He had a complex history of Factor V Leiden with renal thrombosis in childhood. After warfarinisation, his FCVB procedure was uneventful with a good bag SO fill.Results: Post-operative outcomes were initially favourable; however, enucleation was necessary almost three years post-implantation due to spontaneous left hyphaema and intractable raised intraocular pressure. Histology revealed extensive intraretinal fibrotic pannus membranes, loss of photoreceptor architecture and focal foreign body-cell reaction.Conclusions: A complex case of FCVB implantation following ocular trauma with post-operative complications years later. Long-term outcomes of FCVBs are poorly understood; this case was complicated by the patient's systemic coagulopathy.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142830498","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

Adrenal Cortical Carcinoma Presenting as CSCR. 肾上腺皮质癌表现为CSCR。

Retinal Cases and Brief Reports Pub Date : 2024-11-22 DOI: 10.1097/ICB.0000000000001668

A Reza Gohari, Sara P Modjtahedi, Caleb R Telander, MaxX Kong

{"title":"Adrenal Cortical Carcinoma Presenting as CSCR.","authors":"A Reza Gohari, Sara P Modjtahedi, Caleb R Telander, MaxX Kong","doi":"10.1097/ICB.0000000000001668","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001668","url":null,"abstract":"Purpose: We describe a case of bilateral chronic central serous chorioretinopathy (CSCR) secondary to adrenal cortical carcinoma.Methods: Case report of a 70-year-old Hispanic man presenting with bilateral multifocal CSCR.Results: Clinical findings of bilateral chronic CSCR along with 160 µm of subretinal fluid (SRF) and choroidal thickness greater than 400 µm without enhanced depth optical coherence tomography was noted in a patient presenting with distortion in vision in both eyes and weight gain of 15 pounds, weakness, and fatigue starting 8 months prior. Further endocrine testing showed an elevated 24-hour urinary free cortisol level of 137 µg with no change in serum cortisol levels following low-dose dexamethasone suppression test and undetectable serum adrenocorticotropic hormone (ACTH) levels consistent with ACTH-independent Cushing's syndrome. Imaging of the abdomen revealed heterogeneously enhancing masses, and biopsy of the adrenal tumor led to the diagnosis of adrenal cortical carcinoma. He died 3 weeks after starting hospice care, and only completed one round of chemotherapy.Conclusion: Adrenal tumors including adrenal cortical carcinoma may present as bilateral chronic central serous chorioretinopathy.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774745","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 multifocal inner retinitis following a viral illness, likely Covid-19. 病毒性疾病引起的双侧多灶性内层视网膜炎，很可能是 Covid-19。

Retinal Cases and Brief Reports Pub Date : 2024-11-11 DOI: 10.1097/ICB.0000000000001697

Aaron James Chidgey, Carlos Pavesio

引用次数: 0

Bilateral Macular Dysplasia in Coffin-Siris Syndrome. Coffin-Siris 综合征的双侧黄斑发育不良。

Retinal Cases and Brief Reports Pub Date : 2024-11-11 DOI: 10.1097/ICB.0000000000001700

Nahrain Putris Schumaier, Sneha Dodaballapur, Tianyu Liu, Kimberly Drenser, Antonio Capone

{"title":"Bilateral Macular Dysplasia in Coffin-Siris Syndrome.","authors":"Nahrain Putris Schumaier, Sneha Dodaballapur, Tianyu Liu, Kimberly Drenser, Antonio Capone","doi":"10.1097/ICB.0000000000001700","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001700","url":null,"abstract":"Purpose: To report a case of bilateral macular dysplasia without pigmentary retinopathy in a patient with genetically confirmed Coffin-Siris syndrome (CSS) and a co-existing, heterozygous CNGB1 variant.Methods: Case report.Results: A 7-year-old boy who failed his vision screening was referred for retinal consultation after his eye care provider identified bilateral macular deposits. Past medical history included developmental delay, atypical facial features, uteropelvic junction obstruction, koilonychia, and corpus callosum dysgenesis. The patient underwent whole exome sequencing, which revealed a pathogenic variant in the ARID1A gene consistent with a diagnosis of Coffin-Siris syndrome. Genetic testing also revealed a heterozygous, missense variant in the CNGB1 gene of unknown significance. Fundus examination revealed fine hypopigmented lesions in the macula with surrounding retinal pigment epithelial changes in both eyes. Spectral-domain ocular coherence tomography revealed abnormalities of the ellipsoid and interdigitation zones. The patient's best-corrected visual acuity and clinical examination remained stable for a decade since his initial examination, with persistent macular dysplasia and no pigmentary retinopathy.Conclusions: It is possible that the ocular findings in this case may expand the phenotypes associated with CSS.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142632193","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

An Infiltrative Choroidal Lesion. 脉络膜浸润性病变

Retinal Cases and Brief Reports Pub Date : 2024-11-11 DOI: 10.1097/ICB.0000000000001702

Yanliang Li, Hesham Gabr, William F Mieler

引用次数: 0

The Bloom Syndrome and Retinoblastoma patient exhibits two RB1 gene mutations in the germline. 布卢姆综合征和视网膜母细胞瘤患者的种系中有两个 RB1 基因突变。

Retinal Cases and Brief Reports Pub Date : 2024-11-08 DOI: 10.1097/ICB.0000000000001691

Martha Rangel-Charqueño, Cynthia Soto Flores, Mayra Martínez Sánchez Dra, Mariana Moctezuma-Dávila, Vanesa Olivares Illana Dra

{"title":"The Bloom Syndrome and Retinoblastoma patient exhibits two RB1 gene mutations in the germline.","authors":"Martha Rangel-Charqueño, Cynthia Soto Flores, Mayra Martínez Sánchez Dra, Mariana Moctezuma-Dávila, Vanesa Olivares Illana Dra","doi":"10.1097/ICB.0000000000001691","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001691","url":null,"abstract":"Purpose: To report the case of a patient with Bloom Syndrome and retinoblastoma from a genetic perspective. The patient exhibits two RB1 gene mutations in the germline.Methods: The patient underwent an ultrasound study, followed by enucleation of the left eye. Peripheral venous blood samples were collected to isolate mononuclear cells for total RNA and DNA extraction. Subsequently, cDNA synthesis and RT-qPCR were performed. The DNA was used for PCR amplification of the 27 exons. The sequence of the exons of RB1 was analysed.Results: The patient with Bloom Syndrome (BS) and retinoblastoma underwent treatment, and blood samples from the patient and a family member were analysed. The results revealed two germline mutations on exons 13 and 17. The levels of RB1 mRNA were found to be low compared to those of a healthy control and a family member.Conclusion: Without a family history of cancer, a patient with retinoblastoma and BS presents two mutations in the germline on the RB1 gene; this results in very low levels of RB1 mRNA systemically, thereby increasing the patient´s risk of developing another type of cancer throughout his life.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142632248","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

NEURORETINITIS ASSOCIATED WITH COVID-19 INFECTION AND VARICELLA-ZOSTER VIRUS REACTIVATION. 与covid-19感染和水痘-带状疱疹病毒再活化有关的神经视网膜炎。

Retinal Cases and Brief Reports Pub Date : 2024-11-08 DOI: 10.1097/ICB.0000000000001694

Ana Uršula Gavrić, Evelien Margareta Mylemans, Nataša Vidovič Valentinčič

引用次数: 0

Retropupillary sulcus gas migration after retinal detachment repair surgery. 视网膜脱离修复手术后视网膜沟气体移位。

Retinal Cases and Brief Reports Pub Date : 2024-11-01 DOI: 10.1097/ICB.0000000000001685

Mayuresh Naik, Sher Aslam, Fang Helen Mi

{"title":"Retropupillary sulcus gas migration after retinal detachment repair surgery.","authors":"Mayuresh Naik, Sher Aslam, Fang Helen Mi","doi":"10.1097/ICB.0000000000001685","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001685","url":null,"abstract":"Purpose: To elucidate etiology and management of retropupillary sulcus migration of intravitreal gas after uneventful retinal detachment repair surgery.Methods: 70 year old Caucasian man presented with a temporal macula-off rhegmatogenous retinal detachment. 25-gauge (25G) pars plana vitrectomy was performed with cryopexy to retinal tear and 12% C3F8 gas tamponade under sub-Tenon's anaesthesia. At one week review, there was an elevated IOP of 28mmHg with migration of gas to the retropupillary space. Superiorly, iris was displaced anteriorly causing iridocorneal touch. There was no phacodonesis nor subluxation and retina was attached with a cryopexy scar under a 80% vitreous cavity gas fill.Result: On treatment with topical IOP-lowering agents until two-week review, IOP had normalised to 18mmHg with persistent 50% gas fill in the retropupillary sulcus and superior iridocorneal touch.Retropupillary gas resorbed at week four with normalisation of IOP, a localised superior anterior subcapsular cataract with associated posterior synechiae, and no iridocorneal touch. Best-corrected visual acuity was 6/12 Snellen following resorption of vitreous cavity gas.Conclusion: Medical management may be adequate if there is no complete pupil block and adequate posterior gas fill. With complete pupil block, refractory IOP elevation, or inadequate posterior tamponade resulting in failure of retinal attachment, surgical intervention would be required.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142577386","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