Pub Date : 2025-05-02eCollection Date: 2025-01-01DOI: 10.1159/000545290
Mostafa Khalil, Matt Schneiders, Marc Veckeneer, Jozef A Depla, Eric Feron, Shohista Saidkasimova
Introduction: A massive suprachoroidal haemorrhage (SCH) is a devastating complication with significant morbidity and poor visual and anatomic outcome. Conventional management is to observe for 7-14 days before surgical drainage. However, permanent structural changes in the retina can occur within this timeframe. Suprachoroidal injection of recombinant tissue plasminogen activator (TPA) may speed up clot breakdown and aid early surgical drainage. We present a case series of macula-involving massive SCH (MSCH) treated with early drainage aided by recombinant tissue plasminogen activator (r-tPA).
Case presentation: Retrospective case series of 3 patients with macula-involving MSCH treated with suprachoroidal r-tPA within 24 h of bleed and early drainage of SCH within 48 h of r-tPA injection, combined with vitrectomy and tamponade. 100 µg of recombinant TPA was injected into the SCH 24 h following initial injury in all patients. Drainage of the SCH was then performed 6-48 h after the injection of r-tPA. Early drainage was successful and visual improvement was seen in all patients. One patient had a recurrence of SCH but was successfully re-treated.
Conclusion: The technique of r-tPA-assisted early drainage of SCH is safe and has promising potential to restore visual function in patients with macula-involving MSCH. Our small sample would indicate that 100 μg/0.4 mL of r-tPA injected within 24 h of bleed allows surgical drainage of SCH as early as day 2 post initial injury. Larger studies are required to investigate further which patients are likely to benefit from this treatment.
{"title":"Early Drainage of Macula-Involving Massive Suprachoroidal Haemorrhage Assisted with Recombinant Tissue Plasminogen Activator May Lead to Better Visual Prognosis.","authors":"Mostafa Khalil, Matt Schneiders, Marc Veckeneer, Jozef A Depla, Eric Feron, Shohista Saidkasimova","doi":"10.1159/000545290","DOIUrl":"10.1159/000545290","url":null,"abstract":"<p><strong>Introduction: </strong>A massive suprachoroidal haemorrhage (SCH) is a devastating complication with significant morbidity and poor visual and anatomic outcome. Conventional management is to observe for 7-14 days before surgical drainage. However, permanent structural changes in the retina can occur within this timeframe. Suprachoroidal injection of recombinant tissue plasminogen activator (TPA) may speed up clot breakdown and aid early surgical drainage. We present a case series of macula-involving massive SCH (MSCH) treated with early drainage aided by recombinant tissue plasminogen activator (r-tPA).</p><p><strong>Case presentation: </strong>Retrospective case series of 3 patients with macula-involving MSCH treated with suprachoroidal r-tPA within 24 h of bleed and early drainage of SCH within 48 h of r-tPA injection, combined with vitrectomy and tamponade. 100 µg of recombinant TPA was injected into the SCH 24 h following initial injury in all patients. Drainage of the SCH was then performed 6-48 h after the injection of r-tPA. Early drainage was successful and visual improvement was seen in all patients. One patient had a recurrence of SCH but was successfully re-treated.</p><p><strong>Conclusion: </strong>The technique of r-tPA-assisted early drainage of SCH is safe and has promising potential to restore visual function in patients with macula-involving MSCH. Our small sample would indicate that 100 μg/0.4 mL of r-tPA injected within 24 h of bleed allows surgical drainage of SCH as early as day 2 post initial injury. Larger studies are required to investigate further which patients are likely to benefit from this treatment.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"385-394"},"PeriodicalIF":0.5,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12158417/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144274267","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 : 2025-04-29eCollection Date: 2025-01-01DOI: 10.1159/000546142
Barry Power, Michael Wang, Alexandra Z Crawford, Shanu Subbiah
Introduction: Endophthalmitis is an exceptionally rare but devastating complication following laser corneal refractive surgery.
Case presentation: We present a case of Pseudomonas aeruginosa endophthalmitis following routine myopic photorefractive keratectomy with mitomycin C application. The patient was referred to a tertiary ophthalmic service with severe post-operative infectious keratitis following initial management at another centre and was treated with intensive fortified antibiotics. The eye subsequently developed endophthalmitis with corneal perforation, necessitating urgent pars plan vitrectomy facilitated by a temporary keratoprosthesis and subsequent therapeutic penetrating keratoplasty. During anaesthetic induction, the patient developed anaphylaxis, most likely secondary to succinylcholine. Aggressive posterior positive pressure was encountered intra-operatively, resulting in spontaneous extrusion of the crystalline lens. We postulate that the posterior positive pressure was caused by several factors, including massive inflammation, and fluid shifts secondary to anaphylaxis and its associated management. The positive pressure was successfully managed and a keratoprosthesis was secured, allowing completion of vitrectomy and therapeutic penetrating keratoplasty. At 6-month follow-up, the vision remains at light perception.
Conclusion: Endophthalmitis is an exceptionally rare but devastating complication following laser corneal refractive surgery, and the use of mitomycin C might have contributed to the rapid progression observed in the current case. Our report also highlights that acute anaphylaxis and its management can lead to posterior positive pressure, and measures should be taken to reduce the potential impacts before intraocular surgery and full-thickness incisions are made.
{"title":"Post-Operative Endophthalmitis following Routine Photorefractive Keratectomy.","authors":"Barry Power, Michael Wang, Alexandra Z Crawford, Shanu Subbiah","doi":"10.1159/000546142","DOIUrl":"10.1159/000546142","url":null,"abstract":"<p><strong>Introduction: </strong>Endophthalmitis is an exceptionally rare but devastating complication following laser corneal refractive surgery.</p><p><strong>Case presentation: </strong>We present a case of <i>Pseudomonas aeruginosa</i> endophthalmitis following routine myopic photorefractive keratectomy with mitomycin C application. The patient was referred to a tertiary ophthalmic service with severe post-operative infectious keratitis following initial management at another centre and was treated with intensive fortified antibiotics. The eye subsequently developed endophthalmitis with corneal perforation, necessitating urgent pars plan vitrectomy facilitated by a temporary keratoprosthesis and subsequent therapeutic penetrating keratoplasty. During anaesthetic induction, the patient developed anaphylaxis, most likely secondary to succinylcholine. Aggressive posterior positive pressure was encountered intra-operatively, resulting in spontaneous extrusion of the crystalline lens. We postulate that the posterior positive pressure was caused by several factors, including massive inflammation, and fluid shifts secondary to anaphylaxis and its associated management. The positive pressure was successfully managed and a keratoprosthesis was secured, allowing completion of vitrectomy and therapeutic penetrating keratoplasty. At 6-month follow-up, the vision remains at light perception.</p><p><strong>Conclusion: </strong>Endophthalmitis is an exceptionally rare but devastating complication following laser corneal refractive surgery, and the use of mitomycin C might have contributed to the rapid progression observed in the current case. Our report also highlights that acute anaphylaxis and its management can lead to posterior positive pressure, and measures should be taken to reduce the potential impacts before intraocular surgery and full-thickness incisions are made.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"353-359"},"PeriodicalIF":0.5,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12129440/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144207760","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 : 2025-04-26eCollection Date: 2025-01-01DOI: 10.1159/000545942
Bo Zhou, Guoqin Li, Shengbo Wang, Fang Zhou, Peng Wu
Introduction: Melanoma-associated retinopathy (MAR) is a distinct subset within the spectrum of retinal-dysfunction disorders. It is triggered by the cross-reaction between circulating antibodies originating from malignant melanoma (MM) and retinal antigens. The timely identification of paraneoplastic retinal diseases is crucial, as it can significantly contribute to the early diagnosis and treatment of underlying malignancies. Currently, increasing awareness of the early clinical manifestations of MAR is essential for clinicians to detect primary or metastatic MMs at an earlier stage.
Case presentation: This report details a case of a patient who initially presented with night blindness and visual field defects as the primary symptoms. Through a comprehensive and systematic examination process, which involved detailed ophthalmological examinations and multidisciplinary diagnostic approaches, esophageal, and cardia MM was ultimately diagnosed. The patient was referred to an external hospital for comprehensive antitumor management, and posttreatment, the patient self-reported a notable improvement compared to the pretreatment state.
Conclusion: The purpose of sharing this case is to clarify the early clinical manifestations of MAR. It is anticipated that this will prompt clinicians to enhance their vigilance and identify primary or metastatic MMs earlier. Early treatment of the primary disease not only has the potential to reduce the risk of irreversible immune-mediated damage to retinal cells but also to improve visual outcomes. This highlights the significance of early diagnosis and intervention in the management of such diseases, providing important reference for clinicians.
{"title":"A Case of Melanoma-Associated Retinopathy Presenting with Ocular Symptoms as the Initial Manifestation: A Case Report.","authors":"Bo Zhou, Guoqin Li, Shengbo Wang, Fang Zhou, Peng Wu","doi":"10.1159/000545942","DOIUrl":"10.1159/000545942","url":null,"abstract":"<p><strong>Introduction: </strong>Melanoma-associated retinopathy (MAR) is a distinct subset within the spectrum of retinal-dysfunction disorders. It is triggered by the cross-reaction between circulating antibodies originating from malignant melanoma (MM) and retinal antigens. The timely identification of paraneoplastic retinal diseases is crucial, as it can significantly contribute to the early diagnosis and treatment of underlying malignancies. Currently, increasing awareness of the early clinical manifestations of MAR is essential for clinicians to detect primary or metastatic MMs at an earlier stage.</p><p><strong>Case presentation: </strong>This report details a case of a patient who initially presented with night blindness and visual field defects as the primary symptoms. Through a comprehensive and systematic examination process, which involved detailed ophthalmological examinations and multidisciplinary diagnostic approaches, esophageal, and cardia MM was ultimately diagnosed. The patient was referred to an external hospital for comprehensive antitumor management, and posttreatment, the patient self-reported a notable improvement compared to the pretreatment state.</p><p><strong>Conclusion: </strong>The purpose of sharing this case is to clarify the early clinical manifestations of MAR. It is anticipated that this will prompt clinicians to enhance their vigilance and identify primary or metastatic MMs earlier. Early treatment of the primary disease not only has the potential to reduce the risk of irreversible immune-mediated damage to retinal cells but also to improve visual outcomes. This highlights the significance of early diagnosis and intervention in the management of such diseases, providing important reference for clinicians.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"377-384"},"PeriodicalIF":0.5,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12140611/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144233302","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 : 2025-04-26eCollection Date: 2025-01-01DOI: 10.1159/000546129
Adrienne Delaney, Kari E Branham, K Thiran Jayasundera, Naheed W Khan, Abigail T Fahim
Introduction: X-linked inherited retinal dystrophies (IRDs) lead to progressive vision loss in affected males and include choroideremia (CHM), X-linked retinitis pigmentosa (XLRP), and X-linked cone-rod dystrophy (XLCORD). Female carriers may be asymptomatic or manifest disease ranging from mild to severe. Due to the variable manifestation of disease in females, some pedigrees can appear autosomal dominant. However, female carriers presenting as simplex probands are rare and X-linked disease may not be suspected in these cases without genetic testing.
Case presentations: Three affected simplex CHM carriers and six affected simplex XLRP or XLCORD carriers due to variants in RPGR (n = 5) or RP2 (n = 1) were included. Best corrected visual acuity, color fundus photos, fundus autofluorescence (FAF), optical coherence tomography, electroretinography, and Goldmann visual fields were collected. X-chromosome inactivation (XCI) ratios were determined for 4 cases. Age of onset ranged from infancy to 43 years, with nyctalopia as the most common presenting symptom. 4 out of 5 cases with RPGR variants presented with cone or cone-rod dystrophies, while the remaining cases presented with rod-cone dystrophy. XCI analysis revealed extreme skewing in 2 cases who both presented with severe disease. 4 out of 7 cases with FAF demonstrated autofluorescence patterns classic for carrier status. The remaining 3 cases had severe disease and corresponding FAF patterns consistent with their severity.
Conclusion: The absence of family history does not preclude X-linked inheritance in females with retinal dystrophies. Multimodal imaging such as FAF and red-free photos should be included in the workup. As new therapeutic strategies are developed for CHM and RPGR-associated retinal degeneration, including gene therapy, it may become increasingly more important to diagnose symptomatic carriers, as it has been previously shown that earlier intervention is more effective in IRD populations.
{"title":"Female Simplex Carriers of X-Linked Retinal Dystrophies: A Case Series.","authors":"Adrienne Delaney, Kari E Branham, K Thiran Jayasundera, Naheed W Khan, Abigail T Fahim","doi":"10.1159/000546129","DOIUrl":"10.1159/000546129","url":null,"abstract":"<p><strong>Introduction: </strong>X-linked inherited retinal dystrophies (IRDs) lead to progressive vision loss in affected males and include choroideremia (CHM), X-linked retinitis pigmentosa (XLRP), and X-linked cone-rod dystrophy (XLCORD). Female carriers may be asymptomatic or manifest disease ranging from mild to severe. Due to the variable manifestation of disease in females, some pedigrees can appear autosomal dominant. However, female carriers presenting as simplex probands are rare and X-linked disease may not be suspected in these cases without genetic testing.</p><p><strong>Case presentations: </strong>Three affected simplex CHM carriers and six affected simplex XLRP or XLCORD carriers due to variants in <i>RPGR</i> (<i>n</i> = 5) or <i>RP2</i> (<i>n</i> = 1) were included. Best corrected visual acuity, color fundus photos, fundus autofluorescence (FAF), optical coherence tomography, electroretinography, and Goldmann visual fields were collected. X-chromosome inactivation (XCI) ratios were determined for 4 cases. Age of onset ranged from infancy to 43 years, with nyctalopia as the most common presenting symptom. 4 out of 5 cases with <i>RPGR</i> variants presented with cone or cone-rod dystrophies, while the remaining cases presented with rod-cone dystrophy. XCI analysis revealed extreme skewing in 2 cases who both presented with severe disease. 4 out of 7 cases with FAF demonstrated autofluorescence patterns classic for carrier status. The remaining 3 cases had severe disease and corresponding FAF patterns consistent with their severity.</p><p><strong>Conclusion: </strong>The absence of family history does not preclude X-linked inheritance in females with retinal dystrophies. Multimodal imaging such as FAF and red-free photos should be included in the workup. As new therapeutic strategies are developed for CHM and <i>RPGR</i>-associated retinal degeneration, including gene therapy, it may become increasingly more important to diagnose symptomatic carriers, as it has been previously shown that earlier intervention is more effective in IRD populations.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"395-405"},"PeriodicalIF":0.5,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12162115/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144282458","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 : 2025-04-24eCollection Date: 2025-01-01DOI: 10.1159/000544926
Laura E Drew-Bear, Allison Drummond, Crystal Truong, Komal Desai
Introduction: Approximately 5% of patients with cutaneous melanoma develop distant metastases, and very rarely, can involve the eye and orbit. This case report discusses a patient with an unusual presentation of choroidal metastasis secondary to cutaneous melanoma.
Case presentation: A 76-year-old man with a past medical history of cutaneous melanoma on the right shoulder status post radiation presented to the ocular oncology clinic with a 3-month history of decreased vision, occasional pain, and floaters in the right eye. Initial examination revealed a visual acuity of hand motion in the right eye, intraocular pressure of 5 mm Hg, and no view to the fundus due to vitreous hemorrhage. B-scan did not show a retinal tear, retinal detachment, or intraocular tumor. The patient underwent pars plana vitrectomy of the right eye where massive choroidal thickening with subretinal yellow deposits obstructing the optic nerve head was seen, initially concerning lymphoma. On postoperative week one, visual acuity remained hand motion and the fundus exam showed clear vitreous and retinal/choroidal infiltrates obscuring the optic nerve and macula. Repeat B-scan showed retinal and choroidal thickening with exudates. Cytology results from surgery later revealed malignant cells consistent with melanoma. The patient underwent ocular radiation but eventually progressed to no light perception visual acuity. He is currently under observation with the goal of palliative care.
Conclusion: This case highlights the importance of maintaining a high level of suspicion for metastasis in the setting of melanoma history even when presentation can be atypical. Early recognition of choroidal metastasis allows for timely intervention, improving the chances of preserving vision.
{"title":"Metastatic Cutaneous Melanoma Presenting with Choroidal Metastasis Mimicking Lymphoma: A Case Report.","authors":"Laura E Drew-Bear, Allison Drummond, Crystal Truong, Komal Desai","doi":"10.1159/000544926","DOIUrl":"10.1159/000544926","url":null,"abstract":"<p><strong>Introduction: </strong>Approximately 5% of patients with cutaneous melanoma develop distant metastases, and very rarely, can involve the eye and orbit. This case report discusses a patient with an unusual presentation of choroidal metastasis secondary to cutaneous melanoma.</p><p><strong>Case presentation: </strong>A 76-year-old man with a past medical history of cutaneous melanoma on the right shoulder status post radiation presented to the ocular oncology clinic with a 3-month history of decreased vision, occasional pain, and floaters in the right eye. Initial examination revealed a visual acuity of hand motion in the right eye, intraocular pressure of 5 mm Hg, and no view to the fundus due to vitreous hemorrhage. B-scan did not show a retinal tear, retinal detachment, or intraocular tumor. The patient underwent pars plana vitrectomy of the right eye where massive choroidal thickening with subretinal yellow deposits obstructing the optic nerve head was seen, initially concerning lymphoma. On postoperative week one, visual acuity remained hand motion and the fundus exam showed clear vitreous and retinal/choroidal infiltrates obscuring the optic nerve and macula. Repeat B-scan showed retinal and choroidal thickening with exudates. Cytology results from surgery later revealed malignant cells consistent with melanoma. The patient underwent ocular radiation but eventually progressed to no light perception visual acuity. He is currently under observation with the goal of palliative care.</p><p><strong>Conclusion: </strong>This case highlights the importance of maintaining a high level of suspicion for metastasis in the setting of melanoma history even when presentation can be atypical. Early recognition of choroidal metastasis allows for timely intervention, improving the chances of preserving vision.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"360-365"},"PeriodicalIF":0.5,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12133125/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144214931","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 : 2025-04-23eCollection Date: 2025-01-01DOI: 10.1159/000546053
Bava Jeyanathan, Jonathan Micieli
Introduction: Central serous chorioretinopathy (CSCR) is a known complication of corticosteroid use, characterized by the accumulation of subretinal fluid (SRF), which can lead to changes in vision. Giant cell arteritis (GCA) is a systemic vasculitis that often necessitates high-dose corticosteroid treatment to prevent serious complications including permanent vision loss. Although the association between CSCR and corticosteroids is well established, its occurrence in patients diagnosed with GCA remains rarely reported in literature.
Case presentation: We present a case of a 71-year-old man who developed CSCR following 6 months of corticosteroid treatment for GCA. The patient presented with decreased vision in the left eye for 10 days, prompting ophthalmologic evaluation. Initial visual acuity (VA) was measured at 20/60, and OCT identified the presence of SRF, confirming CSCR as the underlying etiology. Following gradual tapering of his prednisone dosage, subsequent OCT confirmed significant reduction in SRF, with VA improving to 20/30 within 3 months.
Conclusion: This case highlights the importance of considering CSCR in the differential diagnosis of new or worsening visual symptoms in GCA patients receiving corticosteroids. The risk for corticosteroid-induced CSCR in these patients creates a diagnostic challenge, as worsening vision may be incorrectly attributed to disease progression rather than being recognized as a treatment-related adverse effect. This case emphasizes the importance of early recognition of CSCR and highlights the need for interdisciplinary collaboration between rheumatologists and ophthalmologists to ensure appropriate management for patients with GCA.
{"title":"Delayed Onset of Central Serous Chorioretinopathy following Corticosteroid Treatment for Giant Cell Arteritis: A Case Report.","authors":"Bava Jeyanathan, Jonathan Micieli","doi":"10.1159/000546053","DOIUrl":"10.1159/000546053","url":null,"abstract":"<p><strong>Introduction: </strong>Central serous chorioretinopathy (CSCR) is a known complication of corticosteroid use, characterized by the accumulation of subretinal fluid (SRF), which can lead to changes in vision. Giant cell arteritis (GCA) is a systemic vasculitis that often necessitates high-dose corticosteroid treatment to prevent serious complications including permanent vision loss. Although the association between CSCR and corticosteroids is well established, its occurrence in patients diagnosed with GCA remains rarely reported in literature.</p><p><strong>Case presentation: </strong>We present a case of a 71-year-old man who developed CSCR following 6 months of corticosteroid treatment for GCA. The patient presented with decreased vision in the left eye for 10 days, prompting ophthalmologic evaluation. Initial visual acuity (VA) was measured at 20/60, and OCT identified the presence of SRF, confirming CSCR as the underlying etiology. Following gradual tapering of his prednisone dosage, subsequent OCT confirmed significant reduction in SRF, with VA improving to 20/30 within 3 months.</p><p><strong>Conclusion: </strong>This case highlights the importance of considering CSCR in the differential diagnosis of new or worsening visual symptoms in GCA patients receiving corticosteroids. The risk for corticosteroid-induced CSCR in these patients creates a diagnostic challenge, as worsening vision may be incorrectly attributed to disease progression rather than being recognized as a treatment-related adverse effect. This case emphasizes the importance of early recognition of CSCR and highlights the need for interdisciplinary collaboration between rheumatologists and ophthalmologists to ensure appropriate management for patients with GCA.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"372-376"},"PeriodicalIF":0.5,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12136551/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144224405","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 : 2025-04-21eCollection Date: 2025-01-01DOI: 10.1159/000545924
Andrew J Nelson, Susanna Park, Marvin D Nelson, Jesse L Berry
Introduction: Intraocular masses in children may present diagnostic dilemmas when clinical examination and imaging are insufficient to diagnose or exclude retinoblastoma. Furthermore, direct biopsy is contraindicated because of the risk of tumor seeding in retinoblastoma. Recent research has shown that aqueous humor biopsy is a safe method of obtaining cell-free DNA which can be used to diagnose retinoblastoma with high sensitivity and specificity, which provides a significant benefit in cases when the diagnosis is otherwise unclear.
Case presentation: An 11-month-old female presented with poor visual behavior since birth and an intraocular mass in the left eye. Examination under anesthesia revealed a detached retina rolled into a stalk attached to the optic nerve in the right eye and a white retrolental mass with perfused vessels in the left eye. Magnetic resonance imaging demonstrated a heterogeneous mass filling the left globe with diffusion restriction and contract enhancement. Aqueous humor liquid biopsy was performed in both eyes with low DNA yield and no mutations associated with retinoblastoma were identified. The patient was observed with no interval change in examination for 6 months.
Conclusion: Aqueous humor liquid biopsy can be used to exclude a diagnosis of retinoblastoma in cases of pediatric intraocular mass with uncertain diagnosis.
{"title":"Aqueous Humor Liquid Biopsy to Exclude Retinoblastoma for a Child with an Intraocular Mass.","authors":"Andrew J Nelson, Susanna Park, Marvin D Nelson, Jesse L Berry","doi":"10.1159/000545924","DOIUrl":"10.1159/000545924","url":null,"abstract":"<p><strong>Introduction: </strong>Intraocular masses in children may present diagnostic dilemmas when clinical examination and imaging are insufficient to diagnose or exclude retinoblastoma. Furthermore, direct biopsy is contraindicated because of the risk of tumor seeding in retinoblastoma. Recent research has shown that aqueous humor biopsy is a safe method of obtaining cell-free DNA which can be used to diagnose retinoblastoma with high sensitivity and specificity, which provides a significant benefit in cases when the diagnosis is otherwise unclear.</p><p><strong>Case presentation: </strong>An 11-month-old female presented with poor visual behavior since birth and an intraocular mass in the left eye. Examination under anesthesia revealed a detached retina rolled into a stalk attached to the optic nerve in the right eye and a white retrolental mass with perfused vessels in the left eye. Magnetic resonance imaging demonstrated a heterogeneous mass filling the left globe with diffusion restriction and contract enhancement. Aqueous humor liquid biopsy was performed in both eyes with low DNA yield and no mutations associated with retinoblastoma were identified. The patient was observed with no interval change in examination for 6 months.</p><p><strong>Conclusion: </strong>Aqueous humor liquid biopsy can be used to exclude a diagnosis of retinoblastoma in cases of pediatric intraocular mass with uncertain diagnosis.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"366-371"},"PeriodicalIF":0.5,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12136566/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144224404","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 : 2025-04-04eCollection Date: 2025-01-01DOI: 10.1159/000545661
Or Shmueli, Tareq Jaouni
Introduction: This report describes a case of late onset subretinal silicone oil migration in an eye with congenital optic disc coloboma and its treatment.
Case presentation: A 15-year-old male with a history of left eye congenital optic disc coloboma and amblyopia presented with a third recurrence of retinal detachment (RD) with proliferative vitreoretinopathy. The patient underwent PPV, subretinal fluid drainage through a peripheral retinotomy, silicone oil tamponade, and endolaser around the coloboma and retinotomy. The retina re-attached successfully. However, 14 months postoperatively examination revealed high intraocular pressure (IOP) of 33 mm Hg and a sub-macular bubble of silicone oil was evident. The patient underwent sub-macular silicone oil removal.
Conclusion: Here we describe the unique late-onset subretinal migration of intravitreal silicone oil following RD repair in an eye with optic disc coloboma in association with raised IOP. This case demonstrates potential mechanisms of subretinal silicone oil migration through the coloboma that serves as a passage and an increased IOP, which drives the oil from the vitreous to the subretinal space.
{"title":"Late-Onset Subretinal Silicone Oil Migration through Optic Disc Coloboma.","authors":"Or Shmueli, Tareq Jaouni","doi":"10.1159/000545661","DOIUrl":"https://doi.org/10.1159/000545661","url":null,"abstract":"<p><strong>Introduction: </strong>This report describes a case of late onset subretinal silicone oil migration in an eye with congenital optic disc coloboma and its treatment.</p><p><strong>Case presentation: </strong>A 15-year-old male with a history of left eye congenital optic disc coloboma and amblyopia presented with a third recurrence of retinal detachment (RD) with proliferative vitreoretinopathy. The patient underwent PPV, subretinal fluid drainage through a peripheral retinotomy, silicone oil tamponade, and endolaser around the coloboma and retinotomy. The retina re-attached successfully. However, 14 months postoperatively examination revealed high intraocular pressure (IOP) of 33 mm Hg and a sub-macular bubble of silicone oil was evident. The patient underwent sub-macular silicone oil removal.</p><p><strong>Conclusion: </strong>Here we describe the unique late-onset subretinal migration of intravitreal silicone oil following RD repair in an eye with optic disc coloboma in association with raised IOP. This case demonstrates potential mechanisms of subretinal silicone oil migration through the coloboma that serves as a passage and an increased IOP, which drives the oil from the vitreous to the subretinal space.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"331-335"},"PeriodicalIF":0.5,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12077865/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144076242","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 : 2025-04-04eCollection Date: 2025-01-01DOI: 10.1159/000545635
Sayena Jabbehdari, Anthony Oganov, Sami H Uwaydat
Introduction: Behçet's disease (BD) is a rare, chronic multisystem disorder characterized by occlusive vasculitis, which can present with a variety of systemic and ocular manifestations. The diagnosis of BD is often challenging, particularly in populations with low prevalence. Retinal vasculitis and stroke can be key indicators, and the early involvement of a multidisciplinary team is essential for accurate diagnosis and management to prevent long-term complications.
Case presentation: A 40-year-old African American female presented with vision changes in her left eye and a history of multiple strokes. Examination revealed retinal ischemia and vasculitis, raising suspicion of an underlying systemic condition. Extensive workup for infectious and inflammatory causes was negative. As her condition progressed, the patient developed genital ulcers, prompting further investigation. A biopsy of the genital ulcer confirmed BD, and a multidisciplinary approach involving ophthalmology, rheumatology, and neurology was initiated. The patient was treated with high-dose corticosteroids, immunosuppressive therapy, and intravitreal corticosteroids, leading to stabilization of her ocular and systemic symptoms. Despite her history of stroke, the collaboration between specialties facilitated better management of her condition and prevention of further complications.
Conclusion: It is crucial to include BD as a potential diagnosis in cases of ophthalmic or systemic vasculitis, even in regions and populations with low prevalence. Early referral to a rheumatologist for cases of vasculitis and timely collaboration are essential for accurate diagnosis, prevention of systemic complications, and appropriate management.
{"title":"From Retinal Vasculitis to Stroke, from Systemic Findings to Diagnosis, the Necessity of Multidisciplinary Management in Behçet's Disease: A Case Report.","authors":"Sayena Jabbehdari, Anthony Oganov, Sami H Uwaydat","doi":"10.1159/000545635","DOIUrl":"https://doi.org/10.1159/000545635","url":null,"abstract":"<p><strong>Introduction: </strong>Behçet's disease (BD) is a rare, chronic multisystem disorder characterized by occlusive vasculitis, which can present with a variety of systemic and ocular manifestations. The diagnosis of BD is often challenging, particularly in populations with low prevalence. Retinal vasculitis and stroke can be key indicators, and the early involvement of a multidisciplinary team is essential for accurate diagnosis and management to prevent long-term complications.</p><p><strong>Case presentation: </strong>A 40-year-old African American female presented with vision changes in her left eye and a history of multiple strokes. Examination revealed retinal ischemia and vasculitis, raising suspicion of an underlying systemic condition. Extensive workup for infectious and inflammatory causes was negative. As her condition progressed, the patient developed genital ulcers, prompting further investigation. A biopsy of the genital ulcer confirmed BD, and a multidisciplinary approach involving ophthalmology, rheumatology, and neurology was initiated. The patient was treated with high-dose corticosteroids, immunosuppressive therapy, and intravitreal corticosteroids, leading to stabilization of her ocular and systemic symptoms. Despite her history of stroke, the collaboration between specialties facilitated better management of her condition and prevention of further complications.</p><p><strong>Conclusion: </strong>It is crucial to include BD as a potential diagnosis in cases of ophthalmic or systemic vasculitis, even in regions and populations with low prevalence. Early referral to a rheumatologist for cases of vasculitis and timely collaboration are essential for accurate diagnosis, prevention of systemic complications, and appropriate management.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"317-322"},"PeriodicalIF":0.5,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12077862/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144076241","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 : 2025-04-03eCollection Date: 2025-01-01DOI: 10.1159/000545542
Khizar Rana, David Curragh, Valerie Juniat, Sandy Patel, James Slattery, Dinesh Selva
Introduction: Intracanalicular vascular malformations are rare. This report describes a case of compressive optic neuropathy secondary to an intracanalicular venous malformation managed with endoscopic transsphenoidal optic canal decompression.
Case presentation: A 43-year-old female presented with an 18-month history of painless vision loss secondary to an intracanalicular venous malformation causing compressive optic neuropathy. Ophthalmic examination showed reduced visual acuity and color vision, relative afferent pupillary defect, and optic disc pallor. Imaging findings were consistent with a slow-flow vascular malformation. An endoscopic transsphenoidal optic canal decompression was performed. The lesion was found to be wrapping around the optic nerve. At follow-up after 1 year, visual acuity had improved along with restoration of full color vision and visual fields.
Conclusion: This case highlights the successful use of endoscopic transsphenoidal optic canal decompression to treat compressive optic neuropathy caused by an intracanalicular venous malformation.
{"title":"Transsphenoidal Optic Canal Decompression to Manage a Venous Malformation of the Optic Canal: A Case Report.","authors":"Khizar Rana, David Curragh, Valerie Juniat, Sandy Patel, James Slattery, Dinesh Selva","doi":"10.1159/000545542","DOIUrl":"https://doi.org/10.1159/000545542","url":null,"abstract":"<p><strong>Introduction: </strong>Intracanalicular vascular malformations are rare. This report describes a case of compressive optic neuropathy secondary to an intracanalicular venous malformation managed with endoscopic transsphenoidal optic canal decompression.</p><p><strong>Case presentation: </strong>A 43-year-old female presented with an 18-month history of painless vision loss secondary to an intracanalicular venous malformation causing compressive optic neuropathy. Ophthalmic examination showed reduced visual acuity and color vision, relative afferent pupillary defect, and optic disc pallor. Imaging findings were consistent with a slow-flow vascular malformation. An endoscopic transsphenoidal optic canal decompression was performed. The lesion was found to be wrapping around the optic nerve. At follow-up after 1 year, visual acuity had improved along with restoration of full color vision and visual fields.</p><p><strong>Conclusion: </strong>This case highlights the successful use of endoscopic transsphenoidal optic canal decompression to treat compressive optic neuropathy caused by an intracanalicular venous malformation.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"313-316"},"PeriodicalIF":0.5,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12064154/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143953651","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}