Taiwan Journal of Ophthalmology最新文献

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Diffuse choroidal hemangioma: IMRT versus episcleral plaque brachytherapy. 弥漫性脉络膜血管瘤:IMRT与膜外斑块近距离治疗。
IF 1
Taiwan Journal of Ophthalmology Pub Date : 2025-03-20 eCollection Date: 2025-01-01 DOI: 10.4103/tjo.TJO-D-24-00154
Adannia Ufondu, Zackery Oakey, Jose Cijin Puthussery, Sheen Cherian, Arun D Singh
{"title":"Diffuse choroidal hemangioma: IMRT versus episcleral plaque brachytherapy.","authors":"Adannia Ufondu, Zackery Oakey, Jose Cijin Puthussery, Sheen Cherian, Arun D Singh","doi":"10.4103/tjo.TJO-D-24-00154","DOIUrl":"https://doi.org/10.4103/tjo.TJO-D-24-00154","url":null,"abstract":"<p><strong>Purpose: </strong>The purpose of this review is to demonstrate the safety and procedures involved in the use of intensity-modulated radiation therapy (IMRT) and three-dimensional (3D)-conformal techniques for the management of diffuse choroidal hemangioma (DCH) and to compare dosimetric outcomes of these techniques to simulated episcleral plaque brachytherapy in the same cohort of 10 patients (11 eyes) with DCH.</p><p><strong>Materials and methods: </strong>A single institutional retrospective review of patients with Sturge-Weber syndrome associated DCH managed with IMRT (20 Gy in 10 fractions). Those same patients were planned for simulated brachytherapy and simulated doses to the fovea, disc, and lens were collected. The dose to organs at risk (critical visual and surrounding structures) was compared to determine potential long-term risks.</p><p><strong>Results: </strong>Ten patients (11 eyes) examined in this review were treated between 2005 and 2023. The use of IMRT and 3D allowed for effective coverage of the planning target volume (PTV) with low doses to critical visual and surrounding structures. Doses to the fovea, disc, and lens using external beam radiotherapy (EBRT) were uniform ranging from 1784 to 2151 cGy, 1695-2204 cGy, and 260-1579 cGy, respectively. Doses to the fovea, disc, and lens using episcleral plaque brachytherapy had ranged from 270 to 12270 cGy, 20623829 cGy, and 270-618 cGy, respectively.</p><p><strong>Conclusion: </strong>IMRT and 3D-conformal technique used to deliver 20 Gy in 10 fractions provides a uniform safe plan in patients with DCHs with reasonable sparing of the lens, fovea, and optic disc. Simulated brachytherapy yielded variable radiation exposure to critical visual and surrounding structures with potential risk of vision-threatening toxicity. Use of EBRT or brachytherapy should be considered on a case-by-case basis driven by estimated radiation dosimetric parameters.</p>","PeriodicalId":44978,"journal":{"name":"Taiwan Journal of Ophthalmology","volume":"15 1","pages":"109-113"},"PeriodicalIF":1.0,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11981580/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144049730","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
Retinoblastoma: Aqueous humor liquid biopsy. 视网膜母细胞瘤:房水活检。
IF 1
Taiwan Journal of Ophthalmology Pub Date : 2025-03-20 eCollection Date: 2025-01-01 DOI: 10.4103/tjo.TJO-D-24-00133
Gisella M Sanchez, Douglas Chigane, Michelle Lin, Liya Xu, Venkata Yellapantula, Jesse L Berry
{"title":"Retinoblastoma: Aqueous humor liquid biopsy.","authors":"Gisella M Sanchez, Douglas Chigane, Michelle Lin, Liya Xu, Venkata Yellapantula, Jesse L Berry","doi":"10.4103/tjo.TJO-D-24-00133","DOIUrl":"https://doi.org/10.4103/tjo.TJO-D-24-00133","url":null,"abstract":"<p><p>Advances in retinoblastoma (RB) therapy have led to significantly improved ocular preservation rates, consequently limiting access to histologic and genomic information traditionally obtained from enucleated eyes. Moreover, genomic information from enucleated specimens often represents heavily pretreated, refractory disease. The introduction of aqueous humor (AH) biopsy marks a significant milestone in ocular oncology, offering <i>in vivo</i>, real-time tumoral genomic data that can be collected at diagnosis and repeatedly throughout treatment. This liquid biopsy has detected <i>RB1</i> gene mutations and deletions and identified potential clinical biomarkers, such as amplification of the 6p chromosomal region and the <i>MYCN</i> gene. In addition, monitoring trends in tumor fraction provides dynamic insights into disease progression. While further research is required to validate these findings in larger populations and uncover new biomarkers, the scientific community has shown growing interest in the clinical potential of this novel approach. AH biopsy is a safe and reproducible procedure that supports precision oncology by providing tumor-specific genomic data for each patient and eye.</p>","PeriodicalId":44978,"journal":{"name":"Taiwan Journal of Ophthalmology","volume":"15 1","pages":"55-61"},"PeriodicalIF":1.0,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11981557/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144020485","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
Ocular oncology: Rare and amazing. 眼部肿瘤:罕见而惊人。
IF 1
Taiwan Journal of Ophthalmology Pub Date : 2025-03-20 eCollection Date: 2025-01-01 DOI: 10.4103/tjo.TJO-D-25-00015
Arun D Singh
{"title":"Ocular oncology: Rare and amazing.","authors":"Arun D Singh","doi":"10.4103/tjo.TJO-D-25-00015","DOIUrl":"https://doi.org/10.4103/tjo.TJO-D-25-00015","url":null,"abstract":"","PeriodicalId":44978,"journal":{"name":"Taiwan Journal of Ophthalmology","volume":"15 1","pages":"1-3"},"PeriodicalIF":1.0,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11981568/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144037781","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
Diffuse choroidal hemangioma: Ophthalmic outcomes following intensity-modulated radiation therapy. 弥漫性脉络膜血管瘤:调强放疗后的眼科预后。
IF 1
Taiwan Journal of Ophthalmology Pub Date : 2025-03-10 eCollection Date: 2025-01-01 DOI: 10.4103/tjo.TJO-D-24-00139
Jose Cijin Puthussery, Adannia Ufondu, Sheen Cherian, Arun D Singh
{"title":"Diffuse choroidal hemangioma: Ophthalmic outcomes following intensity-modulated radiation therapy.","authors":"Jose Cijin Puthussery, Adannia Ufondu, Sheen Cherian, Arun D Singh","doi":"10.4103/tjo.TJO-D-24-00139","DOIUrl":"https://doi.org/10.4103/tjo.TJO-D-24-00139","url":null,"abstract":"<p><strong>Purpose: </strong>To report outcomes in patients treated with low-dose lens-sparing intensity-modulated radiation therapy (IMRT) for diffuse choroidal hemangioma (DCH) associated subretinal (subfoveal) fluid (SRF).</p><p><strong>Material and methods: </strong>Retrospective interventional case series. 10 patients (11 eyes) treated with IMRT for diffuse choroidal hemangioma-associated SRF. Resolution of subretinal fluid, tumor regression, and best-corrected visual acuity (BCVA).</p><p><strong>Results: </strong>The mean age was 9.9 years (range, 0.3-32), with 8 (73%) having exudative retinal detachment in the right eye. The rationale for treatment was the presence of SRF (11 eyes, 100%). At baseline, the maximal height of the tumor was 3.4 mm (range, 1.7-5.3). The mean BCVA in the affected eye was 40 ETDRS letters (range, 5-75). All eyes were treated with IMRT (lens-sparing) at a dose of 20 Gy in 10 fractions. Patients were followed up for an average duration of 7 years (range 6-120 months), with 9 (82%) followed up for more than 2 years. Resolution of SRF was noted in all 11 (100%) eyes, with 6 (55%) eyes showing resolution within 3 months. Tumor response was observed in all eyes 11 (100%) (reduction or stabilization of tumor height), with the mean posttreatment height of 2.0 mm. BCVA improved or remained stable in 10 (91%). Radiation-related complications (cataracts, radiation retinopathy, radiation optic neuropathy) were not observed in any of the treated patients.</p><p><strong>Conclusions: </strong>Low-dose lens-sparing IMRT is a highly effective treatment for diffuse choroidal hemangioma. IMRT resolves subretinal fluid, induces tumor regression, and preserves visual acuity in vast majority of cases.</p>","PeriodicalId":44978,"journal":{"name":"Taiwan Journal of Ophthalmology","volume":"15 1","pages":"103-108"},"PeriodicalIF":1.0,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11981576/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144064654","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
Classification, diagnosis, and management of orbital venous-lymphatic malformations: Current state-of-the-art. 眼眶静脉淋巴畸形的分类、诊断和治疗:最新进展。
IF 1
Taiwan Journal of Ophthalmology Pub Date : 2025-03-10 eCollection Date: 2025-01-01 DOI: 10.4103/tjo.TJO-D-24-00151
Yueh-Ju Tsai, Angel Chao, Yen-Chang Chu, An-Ning Chao
{"title":"Classification, diagnosis, and management of orbital venous-lymphatic malformations: Current state-of-the-art.","authors":"Yueh-Ju Tsai, Angel Chao, Yen-Chang Chu, An-Ning Chao","doi":"10.4103/tjo.TJO-D-24-00151","DOIUrl":"https://doi.org/10.4103/tjo.TJO-D-24-00151","url":null,"abstract":"<p><p>Orbital venous-lymphatic malformations (VLMs) are complex vascular anomalies that pose significant challenges to ophthalmologists due to their diverse clinical manifestations and the difficulties inherent in their therapeutic management, particularly given their proximity to critical orbital structures. This narrative review synthesizes the current knowledge on the classification, pathology, molecular mechanisms, imaging characteristics, and therapeutic strategies for VLMs. Historically misclassified as orbital lymphangiomas, VLMs are now recognized as complex malformations comprising interconnected venous and lymphatic components, with the potential for significant complications, including proptosis, visual impairment, and esthetic disturbances. Recent molecular insights have revealed critical pathogenetic mechanisms, particularly mutations in the <i>PIK3CA</i> gene that activate the phosphatidylinositol 3-kinase (PI3K)/AKT/mammalian target of rapamycin transduction network, alongside the upregulation of vascular endothelial growth factor (VEGF)-mediated signaling. These aberrations not only illuminate the disease etiology but also present promising therapeutic targets. Contemporary management strategies emphasize a multidisciplinary approach, with sclerotherapy emerging as a particularly promising intervention. Sclerosing agents such as bleomycin and pingyangmycin typically yield effective treatment outcomes with relatively favorable safety profiles. Surgical excision is reserved for accessible lesions but often requires adjunctive therapies due to the infiltrative nature of VLMs. Emerging treatments targeting molecular pathways, including PI3K inhibitors and anti-VEGF therapies, show promise in refractory cases. As our understanding deepens, clinicians can now offer more personalized interventions that consider factors such as lesion location, extent, architecture, and hemodynamic characteristics, thereby minimizing morbidity and optimizing clinical and aesthetic outcomes.</p>","PeriodicalId":44978,"journal":{"name":"Taiwan Journal of Ophthalmology","volume":"15 1","pages":"4-13"},"PeriodicalIF":1.0,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11981563/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144045171","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
Current trials in uveal melanoma: Three promising treatments tested to prevent or mitigate the effects of radiation. 目前对葡萄膜黑色素瘤的试验:三种有希望的治疗方法用于预防或减轻辐射的影响。
IF 1
Taiwan Journal of Ophthalmology Pub Date : 2025-03-10 eCollection Date: 2025-01-01 DOI: 10.4103/tjo.TJO-D-24-00120
Yehonatan Weinberger, Arun D Singh
{"title":"Current trials in uveal melanoma: Three promising treatments tested to prevent or mitigate the effects of radiation.","authors":"Yehonatan Weinberger, Arun D Singh","doi":"10.4103/tjo.TJO-D-24-00120","DOIUrl":"https://doi.org/10.4103/tjo.TJO-D-24-00120","url":null,"abstract":"<p><p>Radiation retinopathy is a common complication of radiation treatment, a standard treatment modality for selected uveal melanoma patients. Although radiation offers high levels of ocular control, radiation complications can preclude useful visual function. An unmet need exists for new approaches to the management of uveal melanoma treatment to avoid such complications. In this review, we explore several important trials underway which have the possibility to change the conventional management approach.</p>","PeriodicalId":44978,"journal":{"name":"Taiwan Journal of Ophthalmology","volume":"15 1","pages":"130-134"},"PeriodicalIF":1.0,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11981571/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143990954","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
Immune check point inhibitors for ocular adnexal and periocular tumors. 免疫检查点抑制剂治疗眼附件和眼周肿瘤。
IF 1
Taiwan Journal of Ophthalmology Pub Date : 2025-03-06 eCollection Date: 2025-01-01 DOI: 10.4103/tjo.TJO-D-24-00130
Palwasha Syar, Sara Moussavi, Carlos Torres-Caballa, Bita Esmaeli
{"title":"Immune check point inhibitors for ocular adnexal and periocular tumors.","authors":"Palwasha Syar, Sara Moussavi, Carlos Torres-Caballa, Bita Esmaeli","doi":"10.4103/tjo.TJO-D-24-00130","DOIUrl":"https://doi.org/10.4103/tjo.TJO-D-24-00130","url":null,"abstract":"<p><p>The introduction of immune checkpoint inhibitors (ICIs) into clinical medicine has resulted in more robust response rates for various malignancies, including metastatic and locally advanced periocular and ocular tumors. Their increased utility constitutes a pivotal shift from invasive surgical treatments allowing patients to proceed with eye preserving therapies while also achieving local and metastatic tumor control. The aim of this review article is to provide a summary and updates on the current clinical utility of ICIs for conjunctival and periocular melanoma and squamous cell carcinoma, periocular Merkel cell carcinoma and periocular basal cell carcinoma resistant to BRAF inhibitors. A literature search was conducted on PubMed of programmed cell death protein 1 (nivolumab, pembrolizumab), PD-L1 (atezolizumab, avelumab, durvalumab), and CTLA-4 inhibitors (ipilimumab, tremelimumab) along with previously noted conjunctival and periocular tumors. While this article references several large clinical trials for cutaneous tumors, most of the ocular data are limited to case reports and series. Our overall review presents promising results with the usage of ICI for patients, noting an increased overall survival rate, clinical control of local and metastatic disease and decreased surgical morbidity, while avoiding orbital exenteration. These improvements have not come without considerations for adverse immune-related side effects and clinicians needs to be judicious is deciding between the overall efficacy and side effects.</p>","PeriodicalId":44978,"journal":{"name":"Taiwan Journal of Ophthalmology","volume":"15 1","pages":"14-25"},"PeriodicalIF":1.0,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11981561/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144054263","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
Evolving trends in retinoblastoma management: A 16-year clinicopathological analysis of enucleated eyes. 视网膜母细胞瘤治疗的发展趋势:无核眼16年临床病理分析。
IF 1
Taiwan Journal of Ophthalmology Pub Date : 2025-03-06 eCollection Date: 2025-01-01 DOI: 10.4103/tjo.TJO-D-24-00107
Ari H August, Darcy Curtis, Maya Eiger-Moscovich, Antonio Yaghy, Sara E Lally, Jerry A Shields, Carol L Shields, Ralph C Eagle, Tatyana Milman
{"title":"Evolving trends in retinoblastoma management: A 16-year clinicopathological analysis of enucleated eyes.","authors":"Ari H August, Darcy Curtis, Maya Eiger-Moscovich, Antonio Yaghy, Sara E Lally, Jerry A Shields, Carol L Shields, Ralph C Eagle, Tatyana Milman","doi":"10.4103/tjo.TJO-D-24-00107","DOIUrl":"https://doi.org/10.4103/tjo.TJO-D-24-00107","url":null,"abstract":"<p><strong>Purpose: </strong>New treatments for advanced retinoblastoma (RB) have offered alternatives to primary enucleation. We assessed the impact of these therapies on the indications for enucleation and the histopathological findings in enucleated eyes with RB.</p><p><strong>Materials and methods: </strong>Eyes of all patients who underwent enucleation for RB at a single institution between January 2005 and August 2021 were included. Data collected retrospectively included demographics, clinical and pathologic staging, pathologic findings, and management. Statistical analysis included Kendall's τ<sub>b</sub>, Pearson <i>χ</i> <sup>2</sup>, and Cramér's V.</p><p><strong>Results: </strong>There were 254 eyes from 252 patients with information available for review. Annual enucleations decreased between 2005 and 2008 at a rate of 4.2 enucleations/year, increased from 2008 to 2013 at a rate of 2.7 enucleations/year and decreased from 2013 to 2019 at a rate of 1.5 enucleations/year, reflecting changes in RB therapies. When compared to earlier years, the eyes enucleated in recent years were more likely to be enucleated for patient symptoms (<i>P</i> < 0.001) and insufficient view (<i>P</i> = 0.019), were more likely to have prior treatment (<i>P</i> < 0.001), had lower tumor stage (<i>P</i> = 0.010) and grade (<i>P</i> = 0.006), contained no viable tumor (<i>P</i> < 0.001), and were phthisical (<i>P</i> = 0.003). Five of 252 patients (2%) developed metastases; one of these patients had no viable tumor in a previously treated enucleated eye.</p><p><strong>Conclusion: </strong>Therapeutic innovations shifted the management of RB from primary enucleation in favor of eye salvage. Enucleated eyes show less viable tumor and disease severity but more intraocular degeneration, emphasizing the importance of skilled pathologic interpretation.</p>","PeriodicalId":44978,"journal":{"name":"Taiwan Journal of Ophthalmology","volume":"15 1","pages":"88-102"},"PeriodicalIF":1.0,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11981572/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143990955","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
Current findings of genetic alterations and associated targeted therapies of conjunctival melanocytic neoplasms. 结膜黑色素细胞肿瘤的遗传改变和相关靶向治疗的最新发现。
IF 1
Taiwan Journal of Ophthalmology Pub Date : 2025-03-06 eCollection Date: 2025-01-01 DOI: 10.4103/tjo.TJO-D-24-00109
Lei-Chi Wang, Chieh-Chih Tsai, Tai-Chi Lin, Narsing A Rao
{"title":"Current findings of genetic alterations and associated targeted therapies of conjunctival melanocytic neoplasms.","authors":"Lei-Chi Wang, Chieh-Chih Tsai, Tai-Chi Lin, Narsing A Rao","doi":"10.4103/tjo.TJO-D-24-00109","DOIUrl":"https://doi.org/10.4103/tjo.TJO-D-24-00109","url":null,"abstract":"<p><p>The molecular landscape of numerous human malignancies has been elucidated since the advances in sequencing techniques. However, unlike their cutaneous counterparts, which have a higher incidence and more affected patients as study subjects, conjunctival melanocytic neoplasms are less studied, with evidence mainly restricted to case reports or case series. This review aims to summarize and update findings on genetic alterations in conjunctival melanocytic lesions based on the diagnoses listed in the fifth edition of the World Health Organization classification of the tumors of the eye. These include conjunctival common nevus, conjunctival blue nevus, conjunctival WNT-activated deep penetrating/plexiform melanocytoma (nevus), conjunctival melanocytic intraepithelial lesions, and conjunctival melanoma. We also review the role of genetic alterations in the development and progression of conjunctival melanoma. Furthermore, we compare the genetic alterations of conjunctival melanoma with those of cutaneous melanoma and discuss specific targeted therapies such as <i>BRAF</i> inhibitors, MEK inhibitors, and immunotherapies for localized advanced or metastatic conjunctival melanoma. In conclusion, this article reviews recent advances in genetic alterations and associated treatment strategies for conjunctival melanocytic lesions, including benign, premalignant, and malignant diseases. The similarities between conjunctival and cutaneous melanoma may shed a light on future studies and clinical trials focused on conjunctival melanoma.</p>","PeriodicalId":44978,"journal":{"name":"Taiwan Journal of Ophthalmology","volume":"15 1","pages":"26-33"},"PeriodicalIF":1.0,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11981567/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144062543","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
Retinal vascular proliferation with fibrotic regression in von Hippel-Lindau disease. von Hippel-Lindau病视网膜血管增生伴纤维化消退。
IF 1
Taiwan Journal of Ophthalmology Pub Date : 2025-03-05 eCollection Date: 2025-01-01 DOI: 10.4103/tjo.TJO-D-24-00116
Jing-Yi Chen, Hung-Da Chou, An-Ning Chao, Chi-Chun Lai, Mandeep S Sagoo
{"title":"Retinal vascular proliferation with fibrotic regression in von Hippel-Lindau disease.","authors":"Jing-Yi Chen, Hung-Da Chou, An-Ning Chao, Chi-Chun Lai, Mandeep S Sagoo","doi":"10.4103/tjo.TJO-D-24-00116","DOIUrl":"https://doi.org/10.4103/tjo.TJO-D-24-00116","url":null,"abstract":"<p><p>In this study, we report a rare case of retinal vascular proliferation (RVP) in von Hippel-Lindau (VHL) disease, followed by a literature review. A 12-year-old boy presented with a left cerebellar hemangioblastoma and right eye blurred vision for 1-2 years. Fundus examination found no capillary hemangioblastoma lesion but a broad epiretinal fibrovascular membrane, which caused significant traction to the right macula. The genetic testing identified a pathogenic missense mutation (c. 223A > G) within the <i>VHL</i> gene, confirming VHL disease. RVP is a less common, poorly understood condition that can occur in VHL disease apart from the typical retinal capillary hemangioblastoma. The surface vasculature of the fibrovascular membrane regressed over an observation period of 3 years, and pars plana vitrectomy was eventually conducted at the age of 15 years to remove the fibrovascular membrane. Nevertheless, his visual acuity remained at 20/200 at postoperative 1 year due to the development of cataracts. In our literature review, we analyzed 39 reported cases of RVP, of which 90% had unilateral lesions, 70% had lesions at the juxtapapillary location, and 50% had a visual acuity <20/40. The mean onset age was 24 years. An intervention was performed in 39% of the cases and 78% experienced improved vision posttreatment. In conclusion, RVP likely starts as mainly vascular proliferation and eventually regresses spontaneously to fibrotic tissue formation. Unlike typical retinal capillary hemangioblastoma, vision can improve after an intervention, even in eyes with juxtapapillary lesions.</p>","PeriodicalId":44978,"journal":{"name":"Taiwan Journal of Ophthalmology","volume":"15 1","pages":"138-142"},"PeriodicalIF":1.0,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11981565/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144003781","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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