Pub Date : 2025-10-03eCollection Date: 2025-01-01DOI: 10.1159/000548674
Tuyet-Minh Tran, Ryan Duong, Michael Cusick
Introduction: This report describes a case of spontaneous epiretinal membrane (ERM) separation following an acute symptomatic posterior vitreous detachment (PVD) that was captured on imaging.
Case presentation: A 55-year-old female with a history of an ERM and chronic metamorphopsias in the right eye presented with 2 days of new flashes and floaters. Dilated fundus examination revealed an ERM unchanged from prior and a new Weiss ring. Optical coherence tomography (OCT) demonstrated a new detachment of the posterior hyaloid from the retina with a focal break in the ERM and an area of attachment between the posterior hyaloid and ERM. Six weeks later, OCT revealed complete ERM separation from the retina with restoration of foveal contour.
Conclusion: This case contributes to the existing literature on spontaneous ERM separation via PVD with the mechanism of separation uniquely demonstrated on OCT. Observation may be a reasonable approach for patients with mildly symptomatic ERM who have an attached posterior hyaloid on initial imaging.
{"title":"Spontaneous Separation of Epiretinal Membrane following Acute Posterior Vitreous Detachment Captured on OCT: A Case Report.","authors":"Tuyet-Minh Tran, Ryan Duong, Michael Cusick","doi":"10.1159/000548674","DOIUrl":"10.1159/000548674","url":null,"abstract":"<p><strong>Introduction: </strong>This report describes a case of spontaneous epiretinal membrane (ERM) separation following an acute symptomatic posterior vitreous detachment (PVD) that was captured on imaging.</p><p><strong>Case presentation: </strong>A 55-year-old female with a history of an ERM and chronic metamorphopsias in the right eye presented with 2 days of new flashes and floaters. Dilated fundus examination revealed an ERM unchanged from prior and a new Weiss ring. Optical coherence tomography (OCT) demonstrated a new detachment of the posterior hyaloid from the retina with a focal break in the ERM and an area of attachment between the posterior hyaloid and ERM. Six weeks later, OCT revealed complete ERM separation from the retina with restoration of foveal contour.</p><p><strong>Conclusion: </strong>This case contributes to the existing literature on spontaneous ERM separation via PVD with the mechanism of separation uniquely demonstrated on OCT. Observation may be a reasonable approach for patients with mildly symptomatic ERM who have an attached posterior hyaloid on initial imaging.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"784-790"},"PeriodicalIF":0.6,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12659450/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145647398","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}
Pub Date : 2025-09-29eCollection Date: 2025-01-01DOI: 10.1159/000548594
Cody Lo, Zhao Xun Feng, Ashley Hee Seung Kim, Georges Nassrallah
Introduction: Orbital cellulitis is a serious infection involving the soft tissues of the orbit. Odontogenic orbital cellulitis (OOC) is an important subtype and typically results from the contiguous spread of a dental infection. One uncommon route for this spread is the development of an oroantral fistula (OAF), a communication between the oral cavity and maxillary sinus which typically arises after extraction of a maxillary molar.
Case presentation: A 47-year-old female presented to the emergency department with a 1-day history of right-sided periorbital edema and pain on extraocular movements. She had a history of a right maxillary dental infection which required tooth extraction 2 months prior to presentation. Her ocular exam revealed right periorbital edema and erythema that extended down to the midface with mild tenderness to palpation. Computed tomography scan showed pre-septal cellulitis, post-septal fat stranding, and a right-sided OAF. The patient had a complete resolution of infection and spontaneous closure of the OAF after 1 month of meropenem 1 g IV daily.
Conclusion: In conclusion, this case highlights a rare presentation of OOC due to an OAF occurring months after dental extraction. Immediate imaging due to atypical history, including lack of dental pain, allowed for prompt identification of the OAF and subsequent use of appropriate broad-spectrum antibiotics resulting in a favorable outcome compared to previously published cases. It is critical to recognize odontogenic infections as treatment differs from other etiologies of orbital cellulitis.
眼眶蜂窝织炎是一种严重的眼眶软组织感染。牙源性眼眶蜂窝织炎(OOC)是一种重要的亚型,通常由牙齿感染的连续扩散引起。一种罕见的传播途径是口腔和上颌窦之间的沟通,通常在拔除上颌磨牙后出现。病例介绍:一名47岁女性,因右侧眶周水肿和眼外运动疼痛1天就诊于急诊科。她有右上颌牙感染病史,就诊前2个月需要拔牙。眼部检查发现右眼眶周围水肿及红斑延伸至面部中部,触诊有轻微压痛。计算机断层扫描显示间隔前蜂窝织炎,间隔后脂肪搁浅,右侧OAF。患者在给予美罗培南1 g / d静脉治疗1个月后感染完全消失,OAF自动闭合。结论:总之,本病例突出了一个罕见的由于拔牙后数月发生的OAF而导致的OOC。由于非典型病史,包括没有牙痛,立即成像可以及时识别OAF,随后使用适当的广谱抗生素,与先前发表的病例相比,结果良好。关键是要认识到牙源性感染的治疗不同于其他病因的眼眶蜂窝织炎。
{"title":"Odontogenic Orbital Cellulitis due to an Oroantral Fistula following Dental Extraction: A Case Report.","authors":"Cody Lo, Zhao Xun Feng, Ashley Hee Seung Kim, Georges Nassrallah","doi":"10.1159/000548594","DOIUrl":"10.1159/000548594","url":null,"abstract":"<p><strong>Introduction: </strong>Orbital cellulitis is a serious infection involving the soft tissues of the orbit. Odontogenic orbital cellulitis (OOC) is an important subtype and typically results from the contiguous spread of a dental infection. One uncommon route for this spread is the development of an oroantral fistula (OAF), a communication between the oral cavity and maxillary sinus which typically arises after extraction of a maxillary molar.</p><p><strong>Case presentation: </strong>A 47-year-old female presented to the emergency department with a 1-day history of right-sided periorbital edema and pain on extraocular movements. She had a history of a right maxillary dental infection which required tooth extraction 2 months prior to presentation. Her ocular exam revealed right periorbital edema and erythema that extended down to the midface with mild tenderness to palpation. Computed tomography scan showed pre-septal cellulitis, post-septal fat stranding, and a right-sided OAF. The patient had a complete resolution of infection and spontaneous closure of the OAF after 1 month of meropenem 1 g IV daily.</p><p><strong>Conclusion: </strong>In conclusion, this case highlights a rare presentation of OOC due to an OAF occurring months after dental extraction. Immediate imaging due to atypical history, including lack of dental pain, allowed for prompt identification of the OAF and subsequent use of appropriate broad-spectrum antibiotics resulting in a favorable outcome compared to previously published cases. It is critical to recognize odontogenic infections as treatment differs from other etiologies of orbital cellulitis.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"771-777"},"PeriodicalIF":0.6,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12659451/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145647576","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}
Pub Date : 2025-09-29eCollection Date: 2025-01-01DOI: 10.1159/000548230
Jacob Brucker, Brian Mihok, Jeffrey Bloom
Introduction: Minoxidil is a topical, over-the-counter, FDA-approved drug used to treat male and female pattern hair loss. Three case reports were published associating long-term use of topical minoxidil to central serous chorioretinopathy (CSCR) after 4, 6, and 8 months of use. In this report, we will present a case of CSCR after 1 week of topical minoxidil use that resolved with discontinuation of medication and observation 6 weeks later.
Case presentation: A 34-year-old Hispanic male presented with a 2-week history of central visual loss and flashes in the left eye. His only medication use was 5% topical minoxidil foam for hair loss, which he had started 1 week prior to symptom onset. Ophthalmic exam revealed a round elevation of parafoveal region of the left macula with optical coherence tomography evidence of subretinal fluid and an inferior pigmented epithelial detachment, consistent with CSCR. Given recent initiation of topical minoxidil, we suspected that minoxidil may have induced CSCR. Topical minoxidil was discontinued with recommended observation. There was complete resolution of CSCR at 6-week follow-up.
Conclusion: Subacute, unilateral central visual loss in an otherwise healthy 34-year-old male was found to be caused by minoxidil-induced CSCR. The correlation of topical minoxidil use 1 week prior to symptom onset with resolution of findings 6 weeks after discontinuing the medication suggests CSCR as a side effect of topical minoxidil. This case report suggests that short-term use of topical minoxidil, as short as 1 week, can induce CSCR. Our case shows that minoxidil-induced CSCR can be managed with medication discontinuation and observation.
{"title":"Short-Term Topical Minoxidil Use Associated with Acute Central Serous Chorioretinopathy: A Case Report.","authors":"Jacob Brucker, Brian Mihok, Jeffrey Bloom","doi":"10.1159/000548230","DOIUrl":"10.1159/000548230","url":null,"abstract":"<p><strong>Introduction: </strong>Minoxidil is a topical, over-the-counter, FDA-approved drug used to treat male and female pattern hair loss. Three case reports were published associating long-term use of topical minoxidil to central serous chorioretinopathy (CSCR) after 4, 6, and 8 months of use. In this report, we will present a case of CSCR after 1 week of topical minoxidil use that resolved with discontinuation of medication and observation 6 weeks later.</p><p><strong>Case presentation: </strong>A 34-year-old Hispanic male presented with a 2-week history of central visual loss and flashes in the left eye. His only medication use was 5% topical minoxidil foam for hair loss, which he had started 1 week prior to symptom onset. Ophthalmic exam revealed a round elevation of parafoveal region of the left macula with optical coherence tomography evidence of subretinal fluid and an inferior pigmented epithelial detachment, consistent with CSCR. Given recent initiation of topical minoxidil, we suspected that minoxidil may have induced CSCR. Topical minoxidil was discontinued with recommended observation. There was complete resolution of CSCR at 6-week follow-up.</p><p><strong>Conclusion: </strong>Subacute, unilateral central visual loss in an otherwise healthy 34-year-old male was found to be caused by minoxidil-induced CSCR. The correlation of topical minoxidil use 1 week prior to symptom onset with resolution of findings 6 weeks after discontinuing the medication suggests CSCR as a side effect of topical minoxidil. This case report suggests that short-term use of topical minoxidil, as short as 1 week, can induce CSCR. Our case shows that minoxidil-induced CSCR can be managed with medication discontinuation and observation.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"765-770"},"PeriodicalIF":0.6,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12659399/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145647387","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}
Pub Date : 2025-09-27eCollection Date: 2025-01-01DOI: 10.1159/000548727
Malachy Nemet, Dan Ramon, David Varssano, Shimon Kurtz, Michael Waisbourd
Introduction: Tube exposure is a serious complication of glaucoma drainage device implantation. We describe a novel surgical approach using a partial-thickness corneal patch graft with conjunctival autograft and fibrin glue in a setting of severe conjunctival deficiency.
Case presentation: We describe a 72-year-old man with chronic angle-closure glaucoma who presented with tube exposure 1 year after Ahmed valve implantation. Risk factors included diabetes mellitus, a failed trabeculectomy, and prior vitrectomy. The conjunctiva surrounding the exposed tube was ischemic and immobile, and the original corneal patch graft had partially degraded. Revision surgery involved suturing a 4-mm partial-thickness corneal button over the exposed tube, anchored to the residual graft edge and sclera. Due to insufficient mobile conjunctiva, a 4 × 3 mm conjunctival autograft was harvested from the temporal bulbar conjunctiva and secured with fibrin glue at the border of the corneal button, partially covering it, to promote epithelialization. At 1-year follow-up, the tube remained fully covered with no recurrence.
Conclusion: This unique surgical approach using a partial-thickness corneal button and conjunctival autograft offers a viable alternative in cases of tube exposure with severe conjunctival deficiency, where traditional techniques such as conjunctival advancement are not feasible.
{"title":"Partial-Thickness Corneal Patch Graft with Fibrin Glue for Tube Shunt Exposure: Case Report.","authors":"Malachy Nemet, Dan Ramon, David Varssano, Shimon Kurtz, Michael Waisbourd","doi":"10.1159/000548727","DOIUrl":"10.1159/000548727","url":null,"abstract":"<p><strong>Introduction: </strong>Tube exposure is a serious complication of glaucoma drainage device implantation. We describe a novel surgical approach using a partial-thickness corneal patch graft with conjunctival autograft and fibrin glue in a setting of severe conjunctival deficiency.</p><p><strong>Case presentation: </strong>We describe a 72-year-old man with chronic angle-closure glaucoma who presented with tube exposure 1 year after Ahmed valve implantation. Risk factors included diabetes mellitus, a failed trabeculectomy, and prior vitrectomy. The conjunctiva surrounding the exposed tube was ischemic and immobile, and the original corneal patch graft had partially degraded. Revision surgery involved suturing a 4-mm partial-thickness corneal button over the exposed tube, anchored to the residual graft edge and sclera. Due to insufficient mobile conjunctiva, a 4 × 3 mm conjunctival autograft was harvested from the temporal bulbar conjunctiva and secured with fibrin glue at the border of the corneal button, partially covering it, to promote epithelialization. At 1-year follow-up, the tube remained fully covered with no recurrence.</p><p><strong>Conclusion: </strong>This unique surgical approach using a partial-thickness corneal button and conjunctival autograft offers a viable alternative in cases of tube exposure with severe conjunctival deficiency, where traditional techniques such as conjunctival advancement are not feasible.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"778-783"},"PeriodicalIF":0.6,"publicationDate":"2025-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12659404/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145647125","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}
Pub Date : 2025-09-22eCollection Date: 2025-01-01DOI: 10.1159/000548547
Hind M Alhodaly, Amal Alhemidan
Introduction: Involuntary muscle stimulation by a nerve other than the normal muscle innervation leads to ocular synkinesis. The most common form of ocular synkinesis, which involves the extraocular muscles, occurs between the abducens and oculomotor nerves.
Case presentation: We describe a case of congenital unilateral trochlear-oculomotor synkinesis in a healthy 31-year-old woman, along with a review of the related literature. The patient shows unusual lid retraction when she depresses and adducts her left eye. Additionally, we discuss the proposed mechanisms underlying the pathophysiology, the ophthalmic workup, and suggested management strategies.
Conclusion: Given its rarity and potential to cause diagnostic confusion, physicians need to be aware of this condition.
{"title":"Congenital Unilateral Trochlear-Oculomotor Nerve Synkinesis: A Case Report.","authors":"Hind M Alhodaly, Amal Alhemidan","doi":"10.1159/000548547","DOIUrl":"10.1159/000548547","url":null,"abstract":"<p><strong>Introduction: </strong>Involuntary muscle stimulation by a nerve other than the normal muscle innervation leads to ocular synkinesis. The most common form of ocular synkinesis, which involves the extraocular muscles, occurs between the abducens and oculomotor nerves.</p><p><strong>Case presentation: </strong>We describe a case of congenital unilateral trochlear-oculomotor synkinesis in a healthy 31-year-old woman, along with a review of the related literature. The patient shows unusual lid retraction when she depresses and adducts her left eye. Additionally, we discuss the proposed mechanisms underlying the pathophysiology, the ophthalmic workup, and suggested management strategies.</p><p><strong>Conclusion: </strong>Given its rarity and potential to cause diagnostic confusion, physicians need to be aware of this condition.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"759-764"},"PeriodicalIF":0.6,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12659156/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145647607","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}
Pub Date : 2025-09-19eCollection Date: 2025-01-01DOI: 10.1159/000546786
Mohammed-Nabil Kaliche, Jean-Philippe Nordmann, Marc Putterman, Thien-Huong Nguyen, Amin Bennedjai
Introduction: This case report details a pseudotumoral lesion of the lacrimal sac, serving as the initial manifestation of seronegative IgG4 disease.
Case presentation: A 36-year-old female, without notable medical history, presented with a swelling located near the inner canthus and lacrimal crest associated with pain and skin redness. Despite two rounds of antibiotics, there was no improvement. Initially diagnosed as chronic dacryocystitis, antibiotic therapy with amoxicillin clavulanate was continued, and an orbital MRI was conducted for further evaluation. The MRI revealed a fibrous tissue process adjacent to the lacrimal sac, raising suspicion of malignancy. A biopsy under general anesthesia was performed due to a strong suspicion of squamous cell carcinoma of the sac. Biopsy revealed lymphoplasmacytic infiltration and storiform fibrosis, meeting ACR/EULAR criteria for IgG4 disease. Internal medicine evaluation found no extralacrimal organ involvement, and serum IgG levels were normal. Diagnostic criteria, including clinical presentation, imaging review, histological features, and exclusion criteria, confirmed IgG4 disease and ruled out malignancy. Systemic corticosteroid therapy resulted in rapid clinical improvement, supporting the diagnosis.
Conclusion: This case underscores the diagnostic challenges of IgG4 disease, emphasizing the importance of a comprehensive approach, including histological confirmation. Distinguishing it from malignancies is crucial, and biopsy should be considered in cases of diagnostic uncertainty before invasive or systemic treatments for suspected tumors.
{"title":"Pseudotumoral Lesion of the Lacrimal Sac Unveiling Seronegative IgG4-Related Disease: A Diagnostic Challenge.","authors":"Mohammed-Nabil Kaliche, Jean-Philippe Nordmann, Marc Putterman, Thien-Huong Nguyen, Amin Bennedjai","doi":"10.1159/000546786","DOIUrl":"10.1159/000546786","url":null,"abstract":"<p><strong>Introduction: </strong>This case report details a pseudotumoral lesion of the lacrimal sac, serving as the initial manifestation of seronegative IgG4 disease.</p><p><strong>Case presentation: </strong>A 36-year-old female, without notable medical history, presented with a swelling located near the inner canthus and lacrimal crest associated with pain and skin redness. Despite two rounds of antibiotics, there was no improvement. Initially diagnosed as chronic dacryocystitis, antibiotic therapy with amoxicillin clavulanate was continued, and an orbital MRI was conducted for further evaluation. The MRI revealed a fibrous tissue process adjacent to the lacrimal sac, raising suspicion of malignancy. A biopsy under general anesthesia was performed due to a strong suspicion of squamous cell carcinoma of the sac. Biopsy revealed lymphoplasmacytic infiltration and storiform fibrosis, meeting ACR/EULAR criteria for IgG4 disease. Internal medicine evaluation found no extralacrimal organ involvement, and serum IgG levels were normal. Diagnostic criteria, including clinical presentation, imaging review, histological features, and exclusion criteria, confirmed IgG4 disease and ruled out malignancy. Systemic corticosteroid therapy resulted in rapid clinical improvement, supporting the diagnosis.</p><p><strong>Conclusion: </strong>This case underscores the diagnostic challenges of IgG4 disease, emphasizing the importance of a comprehensive approach, including histological confirmation. Distinguishing it from malignancies is crucial, and biopsy should be considered in cases of diagnostic uncertainty before invasive or systemic treatments for suspected tumors.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"745-751"},"PeriodicalIF":0.6,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12659169/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145647389","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}
Introduction: This article presents the results of a prospective pilot study on circulating tumor DNA (ctDNA) monitoring in uveal melanoma (UM) patients, along with a systematic review of the literature to support and contextualize the findings. We investigated the clinical utility of ctDNA variant allele frequency (VAF) for early detection of tumor progression.
Case presentations: We performed serial ctDNA testing using the Ion AmpliSeq Cancer Hotspot Panel v2 and Ion Proton™ sequencing in 3 UM patients (two recurrent, one nonrecurrent) at four time points over 2 years. A systematic review of studies up to June 2024 was also conducted, identifying 32 additional UM patients. In recurrent patients, co-occurring mutations in GNAQ, GNAS, and IDH1 were identified at the time of recurrence, with minimum VAFs of 0.51%, 0.25%, and 0.1%, respectively. In the nonrecurrent patient, pathogenic variants were absent, and VAFs of key genes declined over time. The systematic review supported the association of ctDNA alterations with recurrence and metastasis, identifying critical genes including GNAQ/11, GNAS, IDH1, STK11, FGFR2, and EGFR, many of which interact with the BAP1 signaling pathway.
Conclusion: Serial ctDNA analysis may serve as a noninvasive tool for early detection of recurrence in UM. Co-occurrence of GNAQ, GNAS, and IDH1 mutations may represent a molecular signature of recurrence. Further validation in larger cohorts is needed to define optimal gene panels and VAF thresholds for clinical use.
本文介绍了一项关于葡萄膜黑色素瘤(UM)患者循环肿瘤DNA (ctDNA)监测的前瞻性先导研究的结果,并对文献进行了系统回顾,以支持和背景化这些发现。我们研究了ctDNA变异等位基因频率(VAF)在早期检测肿瘤进展中的临床应用。病例介绍:我们使用Ion AmpliSeq Cancer Hotspot Panel v2和Ion Proton™测序对3例UM患者(2例复发,1例非复发)在2年内的4个时间点进行了连续ctDNA检测。对截至2024年6月的研究进行了系统评价,确定了32名额外的UM患者。在复发患者中,在复发时发现GNAQ、GNAS和IDH1共发生突变,最小VAFs分别为0.51%、0.25%和0.1%。在非复发患者中,致病变异不存在,关键基因的VAFs随时间下降。系统评价支持ctDNA改变与复发和转移的关联,鉴定出关键基因包括GNAQ/11、GNAS、IDH1、STK11、FGFR2和EGFR,其中许多与BAP1信号通路相互作用。结论:序列ctDNA分析可作为早期发现UM复发的无创工具。GNAQ, GNAS和IDH1突变的共同出现可能代表复发的分子特征。需要在更大的队列中进一步验证,以确定临床使用的最佳基因组和VAF阈值。
{"title":"The Value of Detecting and Monitoring ctDNA in Uveal Melanoma: Results of a Pilot Study and a Systematic Review.","authors":"Fatemeh Azimi, Saeed Talebi, Reza Mirshahi, Golnaz Khakpoor, Masood Naseripour","doi":"10.1159/000548442","DOIUrl":"10.1159/000548442","url":null,"abstract":"<p><strong>Introduction: </strong>This article presents the results of a prospective pilot study on circulating tumor DNA (ctDNA) monitoring in uveal melanoma (UM) patients, along with a systematic review of the literature to support and contextualize the findings. We investigated the clinical utility of ctDNA variant allele frequency (VAF) for early detection of tumor progression.</p><p><strong>Case presentations: </strong>We performed serial ctDNA testing using the Ion AmpliSeq Cancer Hotspot Panel v2 and Ion Proton™ sequencing in 3 UM patients (two recurrent, one nonrecurrent) at four time points over 2 years. A systematic review of studies up to June 2024 was also conducted, identifying 32 additional UM patients. In recurrent patients, co-occurring mutations in <i>GNAQ</i>, <i>GNAS</i>, and <i>IDH1</i> were identified at the time of recurrence, with minimum VAFs of 0.51%, 0.25%, and 0.1%, respectively. In the nonrecurrent patient, pathogenic variants were absent, and VAFs of key genes declined over time. The systematic review supported the association of ctDNA alterations with recurrence and metastasis, identifying critical genes including <i>GNAQ/11</i>, <i>GNAS</i>, <i>IDH1</i>, <i>STK11</i>, <i>FGFR2</i>, and <i>EGFR</i>, many of which interact with the BAP1 signaling pathway.</p><p><strong>Conclusion: </strong>Serial ctDNA analysis may serve as a noninvasive tool for early detection of recurrence in UM. Co-occurrence of <i>GNAQ</i>, <i>GNAS</i>, and <i>IDH1</i> mutations may represent a molecular signature of recurrence. Further validation in larger cohorts is needed to define optimal gene panels and VAF thresholds for clinical use.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"791-806"},"PeriodicalIF":0.6,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12659632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145647318","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}
Pub Date : 2025-09-11eCollection Date: 2025-01-01DOI: 10.1159/000548315
Daniella Socci da Costa, Remo Turchetti Moraes, Moyses Eduardo Zajdenweber, André Luiz Land Curi, Jamison Menezes de Souza, Aluisio Rosa Gameiro Filho
Introduction: The aim of this study was to report an unusual case of a presumed paraneoplastic syndrome associated with Hodgkin lymphoma (HL).
Case presentation: An otherwise healthy 18-year-old male patient presented with progressive bilateral visual loss over a 2-month period. Fundus examination revealed multiple yellow-whitish lesions in both eyes, resembling multifocal choroiditis. Over time, the patient developed subretinal fibrosis and a palpable cervical lymph node, which was biopsied, confirming the diagnosis of HL.
Conclusion: Ocular involvement in HL is exceedingly rare and may manifest with a wide range of signs and symptoms. Paraneoplastic inflammatory syndromes should be considered by ophthalmologists in patients with atypical bilateral posterior uveitis.
{"title":"Progressive Subretinal Fibrosis and Uveitis Associated with Hodgkin Lymphoma.","authors":"Daniella Socci da Costa, Remo Turchetti Moraes, Moyses Eduardo Zajdenweber, André Luiz Land Curi, Jamison Menezes de Souza, Aluisio Rosa Gameiro Filho","doi":"10.1159/000548315","DOIUrl":"10.1159/000548315","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of this study was to report an unusual case of a presumed paraneoplastic syndrome associated with Hodgkin lymphoma (HL).</p><p><strong>Case presentation: </strong>An otherwise healthy 18-year-old male patient presented with progressive bilateral visual loss over a 2-month period. Fundus examination revealed multiple yellow-whitish lesions in both eyes, resembling multifocal choroiditis. Over time, the patient developed subretinal fibrosis and a palpable cervical lymph node, which was biopsied, confirming the diagnosis of HL.</p><p><strong>Conclusion: </strong>Ocular involvement in HL is exceedingly rare and may manifest with a wide range of signs and symptoms. Paraneoplastic inflammatory syndromes should be considered by ophthalmologists in patients with atypical bilateral posterior uveitis.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"728-738"},"PeriodicalIF":0.6,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12659167/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145647352","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}
Pub Date : 2025-09-11eCollection Date: 2025-01-01DOI: 10.1159/000547547
Tatsuya Yunoki, Aya Taniguchi, Atsushi Hayashi
Introduction: Herein, we report a case of recurrent and metastatic sebaceous gland carcinoma (SGC) following orbital exenteration, which was managed with S-1 administration.
Case presentation: The patient was a 78-year-old man. At the initial examination, the extension of SGC into the right orbit was noted, for which radiotherapy, instead of orbital exenteration, was administered as per patient preference. However, after 2 years, the tumor enlarged, necessitating right orbital exenteration. Six months after the procedure, recurrence with orbital apex involvement, invasion into the supraorbital wall, and metastasis to the right cervical lymph nodes were observed. Therefore, resection of the supraorbital wall and temporalis muscle skin valve and dissection of the right cervical lymph nodes were performed. Seven months later, positron emission tomography/computed tomography revealed intraorbital recurrence, right submandibular gland metastasis, and lung metastasis. Accordingly, S-1 treatment was initiated, following which the intraorbital lesions and metastases disappeared; the patient remained in remission over 1 year later.
Conclusion: Our findings suggest that S-1 treatment may be effective in the management of refractory SGC.
{"title":"Efficacy of S-1 Treatment in Recurrent and Metastatic Orbital Sebaceous Gland Carcinoma after Orbital Exenteration.","authors":"Tatsuya Yunoki, Aya Taniguchi, Atsushi Hayashi","doi":"10.1159/000547547","DOIUrl":"10.1159/000547547","url":null,"abstract":"<p><strong>Introduction: </strong>Herein, we report a case of recurrent and metastatic sebaceous gland carcinoma (SGC) following orbital exenteration, which was managed with S-1 administration.</p><p><strong>Case presentation: </strong>The patient was a 78-year-old man. At the initial examination, the extension of SGC into the right orbit was noted, for which radiotherapy, instead of orbital exenteration, was administered as per patient preference. However, after 2 years, the tumor enlarged, necessitating right orbital exenteration. Six months after the procedure, recurrence with orbital apex involvement, invasion into the supraorbital wall, and metastasis to the right cervical lymph nodes were observed. Therefore, resection of the supraorbital wall and temporalis muscle skin valve and dissection of the right cervical lymph nodes were performed. Seven months later, positron emission tomography/computed tomography revealed intraorbital recurrence, right submandibular gland metastasis, and lung metastasis. Accordingly, S-1 treatment was initiated, following which the intraorbital lesions and metastases disappeared; the patient remained in remission over 1 year later.</p><p><strong>Conclusion: </strong>Our findings suggest that S-1 treatment may be effective in the management of refractory SGC.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"739-744"},"PeriodicalIF":0.6,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12659166/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145647581","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}
Pub Date : 2025-09-09eCollection Date: 2025-01-01DOI: 10.1159/000548364
Tokuhide Oyama, Makoto Miyajima, Ayako Tazawa
Introduction: Basal cell adenoma (BCA) is a rare benign tumor of the salivary gland, reported to account for 1-3% of all salivary gland tumors, and is the third most common benign salivary gland tumor after pleomorphic adenoma (PA) and Warthin's tumor. We present the first case of a primary BCA of the lacrimal gland, an extremely rare condition, which is very similar in clinical presentation to PA of the lacrimal gland tumor.
Case presentation: An 18-year-old male patient experienced mild right proptosis for 3 years, without diplopia or pain. Orbital CT showed partial bone erosion, and MRI showed a 16 × 18 × 25 mm lobulated, well-defined mass. Anterior orbitotomy was performed to totally remove the entire lacrimal gland tumor along with its surrounding periosteum. Histopathological exams revealed a biphasic pattern of solid and cribriform, with no evidence of perineural invasion, vascular invasion, or invasion of surrounding tissues. The cell membrane and many nuclei of the tumor cells were positive for β-catenin.
Conclusion: BCA is a very rare tumor of the lacrimal gland, but complete resection is the effective treatment. Postoperative follow-up is necessary due to the possibility of malignant transformation.
{"title":"Primary Basal Cell Adenoma of the Lacrimal Gland: A Rare Case.","authors":"Tokuhide Oyama, Makoto Miyajima, Ayako Tazawa","doi":"10.1159/000548364","DOIUrl":"10.1159/000548364","url":null,"abstract":"<p><strong>Introduction: </strong>Basal cell adenoma (BCA) is a rare benign tumor of the salivary gland, reported to account for 1-3% of all salivary gland tumors, and is the third most common benign salivary gland tumor after pleomorphic adenoma (PA) and Warthin's tumor. We present the first case of a primary BCA of the lacrimal gland, an extremely rare condition, which is very similar in clinical presentation to PA of the lacrimal gland tumor.</p><p><strong>Case presentation: </strong>An 18-year-old male patient experienced mild right proptosis for 3 years, without diplopia or pain. Orbital CT showed partial bone erosion, and MRI showed a 16 × 18 × 25 mm lobulated, well-defined mass. Anterior orbitotomy was performed to totally remove the entire lacrimal gland tumor along with its surrounding periosteum. Histopathological exams revealed a biphasic pattern of solid and cribriform, with no evidence of perineural invasion, vascular invasion, or invasion of surrounding tissues. The cell membrane and many nuclei of the tumor cells were positive for β-catenin.</p><p><strong>Conclusion: </strong>BCA is a very rare tumor of the lacrimal gland, but complete resection is the effective treatment. Postoperative follow-up is necessary due to the possibility of malignant transformation.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"752-758"},"PeriodicalIF":0.6,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12659215/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145647376","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}