Case Reports in Ophthalmology最新文献

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Demarcation Laser Photocoagulation for Rhegmatogenous Retinal Detachment: Outcomes in Symptomatic and Asymptomatic Patients. 划定激光光凝治疗孔源性视网膜脱离:有症状和无症状患者的结果。
IF 0.5
Case Reports in Ophthalmology Pub Date : 2025-01-22 eCollection Date: 2025-01-01 DOI: 10.1159/000543240
Jeffrey A Brown, Louis Z Cai, Jesse D Sengillo, James Lin, Harry W Flynn
{"title":"Demarcation Laser Photocoagulation for Rhegmatogenous Retinal Detachment: Outcomes in Symptomatic and Asymptomatic Patients.","authors":"Jeffrey A Brown, Louis Z Cai, Jesse D Sengillo, James Lin, Harry W Flynn","doi":"10.1159/000543240","DOIUrl":"10.1159/000543240","url":null,"abstract":"<p><strong>Introduction: </strong>Demarcation laser photocoagulation (DLP) is an infrequently utilized modality for limited retinal detachments. The current study, a retrospective consecutive case series, reviewed anatomic and visual outcomes in these patients at a single academic center.</p><p><strong>Case presentations: </strong>A search of the electronic medical record identified 10 eyes of 10 patients. Five of the 10 patients were asymptomatic at the time of initial treatment. Five patients had symptoms corresponding to retinal detachment. The asymptomatic patients remained stable without progression at the last follow-up (range 1-8 years). In 2 of 5 symptomatic patients, the retinal detachment progressed through the laser demarcation and, subsequently, underwent vitreoretinal surgery. At the last follow-up, the retina was attached in all five symptomatic patients.</p><p><strong>Conclusion: </strong>In this small series of patients undergoing DLP, the retina remained stable in asymptomatic patients but the retinal detachment progressed through the laser demarcation in the majority of symptomatic patients.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"114-123"},"PeriodicalIF":0.5,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11842075/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467088","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
Nodular Scleritis as Isolated Symptom of IgG4-Related Disease, Mimicking as Conjunctival Lymphoma: A Case Report. 结节性巩膜炎作为igg4相关疾病的孤立症状,模拟结膜淋巴瘤1例报告
IF 0.5
Case Reports in Ophthalmology Pub Date : 2025-01-17 eCollection Date: 2025-01-01 DOI: 10.1159/000543084
Noémie Delaissé, Daniel Blockmans, Rita Van Ginderdeuren, Guy Missotten
{"title":"Nodular Scleritis as Isolated Symptom of IgG4-Related Disease, Mimicking as Conjunctival Lymphoma: A Case Report.","authors":"Noémie Delaissé, Daniel Blockmans, Rita Van Ginderdeuren, Guy Missotten","doi":"10.1159/000543084","DOIUrl":"10.1159/000543084","url":null,"abstract":"<p><strong>Introduction: </strong>Immunoglobulin G4-related disease (IgG4-RD) is a systemic, immune-mediated disorder marked by the infiltration of IgG4-positive plasma cells and fibrosis in affected organs. This report presents a rare case of a patient with isolated nodular scleritis as an IgG4-RD (in a more precise way antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis [AAV] and IgG4-RD overlap syndrome).</p><p><strong>Case presentation: </strong>A 51-year-old woman was referred with the presumed diagnosis of conjunctival lymphoma due to a painful, salmon-colored lesion in the superior conjunctiva of the right eye. A biopsy of the conjunctiva showed a lymphoplasmacytic infiltrate with multiple IgG4-positive cells (>200 cells/high power field), elevated IgG4/IgG ratio of 66% and fibrotic tissue without obvious vasculitis, confirming the diagnosis of IgG4-related disease (IgG4-RD). ANCAs directly against myeloperoxidase were also positive, suggesting AAV. Given that the clinical signs align with both disease entities, it was concluded that the case fits in its restricted sense the newly described overlap syndrome. The scleritis was successfully treated with a tapering dose of corticosteroids and rituximab.</p><p><strong>Conclusion: </strong>This case illustrates a rare presentation of scleritis as an IgG4-RD (in a more precise way AAV and IgG4-RD overlap syndrome) and demonstrates that rituximab and low dose of corticosteroids can lead to remission.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"102-106"},"PeriodicalIF":0.5,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11842084/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467102","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
Development of Macular Atrophy after Macular Hole Surgery in an Eye with Retinitis Pigmentosa. 色素性视网膜炎的黄斑孔手术后黄斑萎缩的发展。
IF 0.5
Case Reports in Ophthalmology Pub Date : 2025-01-17 eCollection Date: 2025-01-01 DOI: 10.1159/000543599
Yuki Goto, Kazuki Kuniyoshi, Kensuke Goto, Tomoyasu Kayazawa, Taro Kominami, Fukutaro Mano, Masuo Sakamoto, Chiharu Iwahashi, Shunji Kusaka
{"title":"Development of Macular Atrophy after Macular Hole Surgery in an Eye with Retinitis Pigmentosa.","authors":"Yuki Goto, Kazuki Kuniyoshi, Kensuke Goto, Tomoyasu Kayazawa, Taro Kominami, Fukutaro Mano, Masuo Sakamoto, Chiharu Iwahashi, Shunji Kusaka","doi":"10.1159/000543599","DOIUrl":"10.1159/000543599","url":null,"abstract":"<p><strong>Introduction: </strong>Macular hole is a rare complication in patients with retinitis pigmentosa that significantly reduces visual acuity. Although vitreous surgery for macular holes generally yields favorable outcomes, postoperative macular atrophy has been reported. We report the second case of retinitis pigmentosa in a patient who developed a 13-year progressive macular atrophy after macular hole surgery.</p><p><strong>Case presentation: </strong>A 64-year-old Japanese woman, who had been diagnosed with retinitis pigmentosa at 52 years of age, presented to our hospital with blurred vision in her left eye. Phacovitrectomy of the left eye was performed after a full-thickness macular hole was revealed by optical coherence tomography. We stained the internal limiting membrane during surgery using 0.05% indocyanine green and peeled it around the macular hole. Nevertheless, slight atrophy of the retinal pigment epithelium appeared in the left macula 17 days after surgery. The macular hole closed 1 year after surgery, and the macular atrophy gradually became more apparent and enlarged. Thirteen years later, atrophy had expanded to 2.5-disc diameters, and the left decimal best-corrected visual acuity was 0.1; no macular degeneration appeared in the right eye. Genetic examination revealed compound heterozygous variants in the <i>EYS</i> gene.</p><p><strong>Conclusion: </strong>Macular atrophy can develop after dye-assisted macular hole surgery for patients with retinitis pigmentosa. Potential risk factors for the development of postoperative macular atrophy include dye toxicity, light toxicity, surgical intervention in the macula, postoperative inflammation, and genotype. However, the exact cause of atrophy remains uncertain.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"107-113"},"PeriodicalIF":0.5,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11842103/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467094","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 Case of Concomitant Acute Zonal Occult Outer Retinopathy and Secondary Nonparaneoplastic Autoimmune Retinopathy. 急性区域性隐蔽性外视网膜病变伴发非副肿瘤性自身免疫性视网膜病变1例。
IF 0.5
Case Reports in Ophthalmology Pub Date : 2025-01-16 eCollection Date: 2025-01-01 DOI: 10.1159/000543577
Shawn Khan, Khushi Saigal, Jillene Moxam, Arash Maleki
{"title":"A Case of Concomitant Acute Zonal Occult Outer Retinopathy and Secondary Nonparaneoplastic Autoimmune Retinopathy.","authors":"Shawn Khan, Khushi Saigal, Jillene Moxam, Arash Maleki","doi":"10.1159/000543577","DOIUrl":"10.1159/000543577","url":null,"abstract":"<p><strong>Introduction: </strong>Acute zonal occult outer retinopathy (AZOOR) is a rare inflammatory retinal disease with rapid outer retinal function loss, photopsias, unremarkable fundus findings, and electroretinography abnormalities. AZOOR diagnosis can be challenging due to its overlap with other retinal conditions, such as acute idiopathic blind spot enlargement syndrome and autoimmune retinopathies (AIRs). Multimodal imaging, including fundus autofluorescence and optical coherence tomography, has improved detection, revealing progressive outer retinal damage. Although the etiology of AZOOR remains uncertain, autoimmune mechanisms and viral associations have been proposed. Recent studies have identified anti-retinal antibodies, complicating differentiation from other AIRs.</p><p><strong>Case presentation: </strong>A 63-year-old male presented with photopsias, floaters, and worsening vision in his left eye. He had a prior diagnosis of AIR with serum antibodies against enolase, arrestin, and heat shock protein 27 (HSP27). Despite corticosteroid therapy, his visual acuity worsened from 20/20 to 20/60. Fundus examination showed subtle changes, and multimodal imaging revealed outer retinal damage consistent with AZOOR. He was started on mycophenolate mofetil, cyclosporine, and intravenous immunoglobulin. Over a year of follow-up, his vision improved to 20/25, and imaging showed stabilization of retinal damage.</p><p><strong>Conclusion: </strong>This case report highlights AZOOR can be associated with secondary np-AIR. Multimodal imaging, electrophysiologic testing of retina and retinal pigment epithelial, and anti-retinal antibody may be helpful for diagnosis of these patients. A combination of conventional immunomodulatory therapy and IVIg can help with controlling AZOOR and secondary np-AIR.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"124-132"},"PeriodicalIF":0.5,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11842096/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467057","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
Dentigerous Cyst Masquerading as Lacrimal Sac Diverticulitis. 冒充泪囊憩室炎的牙性囊肿。
IF 0.5
Case Reports in Ophthalmology Pub Date : 2025-01-13 eCollection Date: 2025-01-01 DOI: 10.1159/000543279
Sumer Doctor, Ayushi Agarwal, Mohammad Javed Ali, Nandini Bothra
{"title":"Dentigerous Cyst Masquerading as Lacrimal Sac Diverticulitis.","authors":"Sumer Doctor, Ayushi Agarwal, Mohammad Javed Ali, Nandini Bothra","doi":"10.1159/000543279","DOIUrl":"10.1159/000543279","url":null,"abstract":"<p><strong>Introduction: </strong>Dentigerous cysts (DCs) involving the orbit are extremely rare. The authors report a unique case of stand-alone orbital DC associated with ectopic canine tooth masquerading as a lacrimal sac diverticulitis with superadded preseptal cellulitis.</p><p><strong>Case presentation: </strong>A 21-year-old lady presented with left inferomedial swelling, associated with pain and redness of 1-week-duration. A lacrimal sac diverticulitis with preseptal cellulitis was suspected and imaging was requested in view of progression. Computed tomography scan of orbit revealed a well-defined heterogenous mass, with associated hyperdense lesion within the mass, prompting a possibility of a foreign body granuloma. Surgical exploration and excision confirmed the diagnosis of an ectopic canine tooth with associated DC along with excessive adhesion of the cyst to the lacrimal sac wall. Maxillary sinus did not show any abnormality. Lacrimal irrigation was patent with no recurrence noted at 6-month follow-up.</p><p><strong>Conclusion: </strong>This report highlights the presentation of DC with associated ectopic canine tooth as an isolated orbital mass, initially manifesting as preseptal cellulitis with lacrimal sac diverticulitis. Recurrent episodes of infection can lead to synechiae formation, rendering adjacent lacrimal sac more prone to injury. Cyst excision with meticulous dissection yields good outcome.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"95-101"},"PeriodicalIF":0.5,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11842074/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467091","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
An Unusual Retinal Presentation of a Novel COL11A1 Mutation: A Case Report. 一种新的COL11A1突变的不寻常视网膜表现:一例报告。
IF 0.5
Case Reports in Ophthalmology Pub Date : 2025-01-10 eCollection Date: 2025-01-01 DOI: 10.1159/000542708
Tobias Peschaut, Monja Michelitsch, Martina Brandner, Sandra Kamper, Lisa Ofner-Ziegenfuss, Jasmin Blatterer, Heidelis Anna Tichy, Laura Posch-Pertl
{"title":"An Unusual Retinal Presentation of a Novel <i>COL11A1</i> Mutation: A Case Report.","authors":"Tobias Peschaut, Monja Michelitsch, Martina Brandner, Sandra Kamper, Lisa Ofner-Ziegenfuss, Jasmin Blatterer, Heidelis Anna Tichy, Laura Posch-Pertl","doi":"10.1159/000542708","DOIUrl":"10.1159/000542708","url":null,"abstract":"<p><strong>Introduction: </strong>Stickler syndrome is a rare collagenopathy, caused by mutations in various genes coding for fibrillar collagens II, IX, and XI. The disorder can be subdivided into different groups, depending on the genes affected and clinical features found in patients. Ocular symptoms, such as high myopia, retinal detachments, or anomalies in the vitreous, are present in most forms of Stickler syndrome. In this case report, we present a patient with an unusual retinal phenotype.</p><p><strong>Case presentation: </strong>Subject of this case report is a 33-year-old woman, who was examined at the Department of Ophthalmology at Medical University of Graz. A thorough ophthalmological examination was conducted, detailed medical and family history acquired, and genetic testing performed. Best corrected visual acuity was 20/20 on both eyes; however, impaired binocular vision associated with intermittent exotropia was found. Furthermore, dilated fundoscopy showed an unusual, hypopigmented spotted retinal phenotype. Fundus autofluorescence showed multiple hyperfluorescent spots corresponding with the spotted retinal appearance. Genetic testing revealed a novel variant in the gene <i>COL11A1</i>. No other ocular abnormalities which are associated with <i>COL11A1</i> were found.</p><p><strong>Conclusion: </strong>Several subtypes of Stickler syndrome have been reported in medical literature, greatly varying in clinical manifestations. Many different mutations in the gene <i>COL11A1</i> have been discovered and are typically associated with Stickler syndrome type 2. To our best knowledge, this is the first report of a patient with a mutation in the <i>COL11A1</i> gene presenting with a hypopigmented spotted retina.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"62-67"},"PeriodicalIF":0.5,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11842027/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467064","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
Peripheral Retinal Ischemia and Secondary Neovascular Glaucoma after Cerclage for Retinal Detachment: A Case Report. 视网膜脱离环扎术后周围视网膜缺血和继发新生血管性青光眼1例报告。
IF 0.5
Case Reports in Ophthalmology Pub Date : 2025-01-07 eCollection Date: 2025-01-01 DOI: 10.1159/000543239
Feliciana Menna, Marcel Menke, Markus Tschopp
{"title":"Peripheral Retinal Ischemia and Secondary Neovascular Glaucoma after Cerclage for Retinal Detachment: A Case Report.","authors":"Feliciana Menna, Marcel Menke, Markus Tschopp","doi":"10.1159/000543239","DOIUrl":"10.1159/000543239","url":null,"abstract":"<p><strong>Introduction: </strong>Various surgical techniques, including 360° buckling surgery with a retinal cerclage, have been employed to achieve retinal reattachment. Although retinal cerclage is generally effective, long-term complications can arise. Peripheral retinal ischemia and secondary neovascular glaucoma are rare, but serious complications can occur even years after successful retinal reattachment.</p><p><strong>Case presentation: </strong>We report a rare case of a 79-year-old woman who underwent 360° buckling surgery with cerclage for retinal detachment 10 years ago. Although the initial surgery successfully reattached the retina, she later developed a complication characterized by peripheral retinal ischemia and secondary neovascular glaucoma.</p><p><strong>Conclusion: </strong>Early detection and prompt management of such complications are crucial to prevent irreversible visual impairment.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"86-94"},"PeriodicalIF":0.5,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11842065/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143466649","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
Ultra-Widefield OCT Images of Proliferative Vitreoretinopathy under Silicone Oil. 硅油作用下增生性玻璃体视网膜病变的超广角OCT图像。
IF 0.5
Case Reports in Ophthalmology Pub Date : 2025-01-07 eCollection Date: 2025-01-01 DOI: 10.1159/000542391
Masaki Kinoshita, Susumu Sakimoto, Masaki Suzue, Masanori Kanai, Nobuhiko Shiraki, Kohji Nishida
{"title":"Ultra-Widefield OCT Images of Proliferative Vitreoretinopathy under Silicone Oil.","authors":"Masaki Kinoshita, Susumu Sakimoto, Masaki Suzue, Masanori Kanai, Nobuhiko Shiraki, Kohji Nishida","doi":"10.1159/000542391","DOIUrl":"10.1159/000542391","url":null,"abstract":"<p><strong>Introduction: </strong>Proliferative vitreoretinopathy (PVR) is a condition in which proliferation forms after rhegmatogenous retinal detachment (RRD) surgery or old RRD, and sometimes, PVR can occur under silicone oil (SO). Here, we report 2 cases of PVR in which we evaluated preoperative B-scan images of proliferation under SO using ultra-widefield swept-source OCT (UWF-SS-OCT).</p><p><strong>Case presentation: </strong>The first case was a 61-year-old male who presented with PVR under SO tamponade after multiple pars plana vitrectomies (PPVs) at the previous hospital, and the second case was a 23-year-old man patient who was diagnosed with Coats disease in childhood and presented with PVR under SO after PPV for total RRD at our hospital. B-scan images of UWF-SS-OCT provided findings of epiretinal two-layered proliferation or emulsified SO in the peripheral area.</p><p><strong>Conclusion: </strong>UWF-SS-OCT is useful for preoperative assessment of the proliferation of PVR before SO removal. In addition, peculiar proliferation may occur in the eye under SO.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"57-61"},"PeriodicalIF":0.5,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11842007/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467099","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
Novel Von Hippel-Lindau Germline Variants in Iranian Patients with Retinal Capillary Hemangioblastoma. 伊朗视网膜毛细血管母细胞瘤患者的新型 Von Hippel-Lindau 基因变异。
IF 0.5
Case Reports in Ophthalmology Pub Date : 2025-01-03 eCollection Date: 2025-01-01 DOI: 10.1159/000543119
Fatemeh Azimi, Kowsar Bagherzadeh, Golnaz Khakpoor, Saeed Talebi, Ahad Sedaghat, Reza Mirshahi, Hengameh Kasraei, Reza Afshar Kiaee, Masood Naseripour
{"title":"Novel Von Hippel-Lindau Germline Variants in Iranian Patients with Retinal Capillary Hemangioblastoma.","authors":"Fatemeh Azimi, Kowsar Bagherzadeh, Golnaz Khakpoor, Saeed Talebi, Ahad Sedaghat, Reza Mirshahi, Hengameh Kasraei, Reza Afshar Kiaee, Masood Naseripour","doi":"10.1159/000543119","DOIUrl":"10.1159/000543119","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of this study was to determine the potential genetic cause of retinal capillary hemangioblastoma (RCH) with symptoms of Von Hippel-Lindau (VHL) disease.</p><p><strong>Case presentations: </strong>Three Iranian families (5 RCH patients) with novel variants are included in this study. The <i>VHL</i> variant analysis was performed by the Sanger sequencing technique. Molecular dynamics (MDs) simulations were conducted to analyze conformational changes resulting from variants in VHL protein structure and were compared with that of the native structure. Novel variant sites, including c.511A>C, c.511A>T, and c.514C>T in exon 3 of the <i>VHL</i> gene were identified. According to the American College of Medical Genetics (ACMG) classifications, c.514C>T (p.P172S) and c.511A>C (p.K171Q) are classified as variants of uncertain significance (VUS), and c.511A>T (p.K171*) is classified as a likely pathogenic variant. MD simulations demonstrated overall fluctuations of the proteins structure and a significantly lower degree of flexibility in the α-domain for the variant-encoded VHL protein structure compared to that of the native form.</p><p><strong>Conclusion: </strong>The structural information and computational analysis of the identified variants are predicted to induce conformational changes that limit the flexibility of protein VHL interaction interface with Elongin B/C, Elongin C/B, and Cullin-2, which are necessary for hypoxia-inducible factor 1-α binding. The genetic variants identified in Iranian patients with RCH may aid in the molecular confirmation of other patients diagnosed with VHL and their at-risk family members. These pioneering results that include detailed structural and functional analysis of a variant's effect on the VHL protein may serve as a model for future studies.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"74-85"},"PeriodicalIF":0.5,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11842073/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143466447","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
Vasoproliferative Retinal Tumors: Manifestations, Management, and Outcomes in a Case Series. 血管增殖性视网膜肿瘤:病例系列的表现、管理和结果。
IF 0.5
Case Reports in Ophthalmology Pub Date : 2024-12-16 eCollection Date: 2025-01-01 DOI: 10.1159/000542956
Ana Faria Pereira, Rita Teixeira-Martins, Amandio Rocha-Sousa, Susana Penas
{"title":"Vasoproliferative Retinal Tumors: Manifestations, Management, and Outcomes in a Case Series.","authors":"Ana Faria Pereira, Rita Teixeira-Martins, Amandio Rocha-Sousa, Susana Penas","doi":"10.1159/000542956","DOIUrl":"10.1159/000542956","url":null,"abstract":"<p><strong>Introduction: </strong>Vasoproliferative retinal tumors (VPRTs) are rare, benign retinal lesions characterized by abnormal vascular proliferation. They may appear sporadically or with systemic conditions like von Hippel-Lindau disease, often resembling other retinal lesions and posing diagnostic challenges. VPRTs can lead to vision loss if not adequately managed. Current management ranges from observation to different treatment strategies, from laser photocoagulation, photodynamic therapy, cryotherapy to intravitreal injections and vitrectomy. However, optimal approach is still debated due to VPRTs' rarity and varied presentations.</p><p><strong>Case presentations: </strong>This series presents three VPRT cases. The first, a 73-year-old man who presented with sudden vision loss due to a VPRT-related vitreous hemorrhage, required multiple interventions, including vitrectomies and anti-VEGF injections, but suffered recurrent macular edema and glaucoma, requiring ongoing management. The second, a 42-year-old asymptomatic man, showed lipid exudation and peripheral retinal detachment, needing photodynamic therapy, laser, and cryotherapy. The third, a 56-year-old woman with decreased visual acuity and epiretinal membrane, achieved stability and good visual outcomes after vitrectomy with cryotherapy.</p><p><strong>Conclusions: </strong>VPRTs pose diagnostic and therapeutic challenges given their heterogeneous presentations and potential for complications. Our cases illustrate that a multimodal management strategy - incorporating tailored combinations of therapies such as laser photocoagulation, cryotherapy, anti-VEGF injections, and surgery - is essential to address individual characteristics of each patient's disease. Personalized treatment approaches allow for precise targeting of the lesions while minimizing risk of complications, contributing to better disease stabilization and visual outcomes. Early detection and tailored management are essential, though further research is needed to establish standardized treatment protocols.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"27-36"},"PeriodicalIF":0.5,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11842064/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467106","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
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