Retinal Cases and Brief Reports最新文献

{"title":"Successful management of a giant macular hole in Alport syndrome using autologous retinal translation as an initial procedure.","authors":"Renu P Rajan, Avik Dey Sarkar, Anirban Chakraborti, Naresh Babu Kannan","doi":"10.1097/ICB.0000000000001794","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001794","url":null,"abstract":"<p><strong>Purpose: </strong>Alport Syndrome is a complex systemic disorder that interferes with collagen type IV synthesis and presents with a variety of ocular symptoms. Management of complications arising out of it is challenging.</p><p><strong>Methods: </strong>This article depicts a unique case of Alport Syndrome with rare ocular features and successful management of it.</p><p><strong>Results: </strong>A 30-year female with known Alport syndrome presented with Bilateral anterior lenticonus and unilateral giant macular hole(1791µm) in OD. She underwent simultaneous cataract extraction along with macular hole surgery in right eye. Intraoperatively Internal Limiting membrane was not found with dye staining. The full-thickness macular hole was successfully closed with an autologous retinal graft. On follow-up, the graft was found in situ covering the defect until her last follow-up even after 6 months and her BCVA in OD improved to 20/40.</p><p><strong>Conclusion: </strong>This article discusses in detail the successful management of a giant macular hole in a patient with Alport Syndrome, using a primary Retinal graft as an initial procedure.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144762334","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Idiopathic Acute Exudative Polymorphous Vitelliform Maculopathy - Case Series and Extended Features.","authors":"Efrat Naaman, Assaf Rosenberg, Wasim Nasser, Raz Tshuva-Bitton, Rina Leibu, Tamar Ben-Yosef, Ido Perlman, Shiri Zayit-Soudry","doi":"10.1097/ICB.0000000000001790","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001790","url":null,"abstract":"<p><strong>Purpose: </strong>Idiopathic acute exudative polymorphous vitelliform maculopathy (AEPVM) is a rare condition characterized by acute vision loss and distinctive retinal findings. Here we describe the disease course in three previously unpublished subjects diagnosed with AEPVM and a previously undescribed imaging feature.</p><p><strong>Methods: </strong>We present the clinical presentation, disease progression, and multimodal imaging, along with retinal electrophysiology and genetic testing for PRPH2 and BEST1.</p><p><strong>Results: </strong>All patients exhibited AEPVM-related retinal findings, including bilateral localized serous macular detachments that coalesced over time, forming yellow white vitelliform deposits with a hyperautofluorescent meniscus. SD-OCT revealed a previously unreported selective elongation of the outer retina throughout the macula, sparing the retinal midperiphery. Full-field electroretinography )ERG( was near normal in two patients, while multifocal ERG showed reduced responses. Genetic sequencing of PRPH2 and BEST1 revealed no pathogenic mutations, and systemic evaluation ruled out malignancy.</p><p><strong>Conclusions: </strong>Idiopathic AEPVM is a rare disease characterized by distinctive retinal imaging findings. An interesting observation is that the outer retinal elongation occurs only in the macular region of the retina, which is supported by the ERG results. These findings suggest an interruption at the level of the macular photoreceptors, retinal pigment epithelium (RPE), or their interactions.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144715211","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute bilateral retinal and choroidal detachment - A case report.","authors":"Aliénor Vienne-Jumeau, Adélaïde Toutée, Samira Zegrari, Céline Jamart, Isabelle Audo, Michel Paques, Sarah Mrejen","doi":"10.1097/ICB.0000000000001793","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001793","url":null,"abstract":"<p><strong>Purpose: </strong>To report an unusual episode of acute bilateral retinal and choroidal detachment.</p><p><strong>Methods: </strong>Case report.</p><p><strong>Results: </strong>We report the case of a fifty-seven-year-old male referred to the emergency department for an acute bilateral retinal detachment. He had experienced profound visual loss three weeks earlier while hospitalized for sepsis of unknown cause. Fundoscopy revealed bilateral annular retinal and choroidal detachment, confirmed by echography. An extensive work-up was negative, and the patient was given steroid boluses for suspected uveal effusion syndrome, although the axial length was normal. After five days of steroid treatment, minimal improvement was observed. The treatment was discontinued, and new multimodal imaging revealed a hyperfluorescent spot on fluorescein angiography (FA) in the right eye with subretinal hyperreflective material on corresponding optical coherence tomography suggesting fibrin and adjacent serous detachment. The spot was treated with laser photocoagulation, and the retinal detachment started to decrease two days later. Additional hyperfluorescent spots were later found and treated with laser photocoagulation. Over a few weeks, both functional and anatomical improvements were observed. Over the course of seven months, the central serous retinal detachment slowly and completely resolved while vision progressively and dramatically improved. This very slow and dramatic anatomical and functional improvement was atypical for both uveal effusion syndrome and central serous chorioretinopathy.</p><p><strong>Conclusions: </strong>This atypical case of type-3 uveal effusion syndrome presented as acute bilateral retinal and choroidal detachment with central serous chorioretinopathy-like features. Multifocal laser photocoagulation may have improved both functional and anatomical outcomes, with dramatic recovery after seven months.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144700280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Home Optical Coherence Tomography-guided Management of Type 3 Macular Neovascularization.","authors":"Livia Faes, Nancy Holekamp, Gidi Benyamini, Kester Nahen, Nishant Mohan, K Bailey Freund","doi":"10.1097/ICB.0000000000001792","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001792","url":null,"abstract":"<p><strong>Purpose: </strong>To explore the impact of home optical coherence tomography (OCT)-guided treatment personalization for type 3 macular neovascularization (MNV) in age-related macular degeneration (AMD).</p><p><strong>Methods: </strong>A prospective home OCT trial of a patient with a one-month history of type 3 MNV under anti-angiogenic treatment (two \"loading\" injections). During the 23.4-week study period, the patient's treatment regimen was managed through regular self-imaging, enabling continuous monitoring of retinal fluid dynamics.</p><p><strong>Results: </strong>Over the observation period, the patient performed 143 home OCT measurements (mean 6.1 per week, standard deviation 1), which prompted three in-office visits where three anti-angiogenic injections were delivered at the discretion of the investigator. The mean individualized treatment intervals established through home OCT were 8 weeks, with the patient maintaining stable visual acuity at 20/20 Snellen. Complete resolution of intraretinal fluid was noted between injection. Notably, home OCT revealed unexpected fluctuations in retinal fluid measured as hyporeflective spaces in the absence of treatment. Two out of three injections were administered after the retinal fluid volume had decreased by more than half within two, and eight days following an initial transient spike.</p><p><strong>Conclusion: </strong>The neovascular subtype as defined by the Consensus Nomenclature for Reporting Neovascular AMD Data (CONAN) may serve as a useful management framework when approaching home OCT guided treatment decisions. In type 3 disease, home OCT-guided management demonstrates significant potential for optimizing treatment. Further research is warranted to elucidate the dynamics of retinal fluid variations in different MNV subtypes.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144700281","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rapid progression of maculopathy after Pentosan Polysulfate Sodium cessation.","authors":"Melanie Tran, Akshay Prashant Agnihotri, Ines D Nagel, Naomi Wagner, Eric Nudleman, Shyamanga Borooah","doi":"10.1097/ICB.0000000000001791","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001791","url":null,"abstract":"<p><strong>Purpose: </strong>To report a case of pentosan polysulfate sodium (PPS) maculopathy showing rapid progression of retinopathy 4 years after discontinuing PPS.</p><p><strong>Methods: </strong>A 75-year-old woman presenting with gradual vision changes underwent comprehensive examination including multimodal imaging and genetic testing.</p><p><strong>Results: </strong>A 75-year-old woman presented with a history of intermediate age-related macular degeneration and progressive blurring of her central vision beginning at 69 years of age. Fundoscopic examination revealed retinal pigment epithelium (RPE) abnormalities and multifocal outer retinal loss. The patient had been first prescribed PPS for interstitial cystitis (IC) aged 63 with a cumulative PPS dose of approximately 1300 grams and ceased PPS at 71 years of age. She was noted to have only minimal retinal changes prior to drug cessation. Four years post-cessation, the patient reported marked night vision and color vision abnormalities and was noted to have severe retinal changes including macular atrophy. Genetic testing revealed the patient to be homozygous for the previously reported risk alleles.</p><p><strong>Conclusion: </strong>PPS maculopathy is an acquired toxic disease that can significantly impact a patient's quality of life. Our report highlights that marked progression of PPS retinopathy can occur even after drug cessation and that patients need to be carefully monitored and given supportive management.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144700282","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unilateral Retinal Pigment Epithelium Dysgenesis (URPED): New Cases, Literature Review, and Considerations of the Similarities and Differences with Combined Hamartoma of the Retina and Retinal Pigment Epithelium (CHRRPE).","authors":"Salomon Y Cohen, Thomas Lathiere, Victoria Marechal, Francesco Rodriguez, Eric Souied, Carol L Shields","doi":"10.1097/ICB.0000000000001785","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001785","url":null,"abstract":"<p><strong>Purpose: </strong>To report new cases of unilateral retinal pigment epithelium dysgenesis (URPED), review the literature, and compare its characteristics with other conditions, including combined hamartoma of the retina and retinal pigment epithelium (CHRRPE).</p><p><strong>Methods: </strong>Case reports and analysis of multimodal imaging findings, and complications of URPED.</p><p><strong>Results: </strong>Three new male cases of typical URPED, aged 40-75 years, were described. With these new cases, in addition to those previously published, 26 cases in total were reported, highlighting the value of clinical and imaging tools. Clinically, URPED was detected at a mean age of 31 years, mainly in men (15/26, 57%), as a flat pigmented lesion (19/26, 73%), sometimes with a honeycomb pattern of the entire lesion (4/26, 15%), but systematically with spiculated or fringe-like margins (26/26, 100%). The tumor was systematically located at the posterior pole, generally contiguous with the optic disc (23/26, 88%). Fundus autofluorescence and fluorescein angiography systematically showed a characteristic inversion (black/white) of URPED at the spiculated margins. Indocyanine green angiography, electrophysiology, B-scan ultrasonography, and functional tests appeared to be of lesser diagnostic value. Optical coherence tomography showed a normal overlying retina, although retinal thinning with photoreceptor disruption and/or internal limiting membrane irregularities were sometimes observed. Other conditions, including CHRRPE, retinal hemangioblastoma, RPE adenoma/adenocarcinoma, and ocular trauma sequelae may present with a similar small area of spiculated border, usually associated with retinal thickening and folding, and a dense epiretinal membrane.</p><p><strong>Conclusion: </strong>URPED has typical clinical and imaging features allowing differentiating it from other ocular conditions.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144683541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intraocular tissue plasminogen activator during vitrectomy in the management of acute severe bacterial endophthalmitis.","authors":"Monia A Reding, Prethy Rao, Emmanuel Y Chang","doi":"10.1097/ICB.0000000000001789","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001789","url":null,"abstract":"<p><strong>Purpose: </strong>To describe a novel off-label use of tissue plasminogen activator (tPA) in the setting of severe endophthalmitis for improved surgical outcomes during pars plana vitrectomy.</p><p><strong>Methods: </strong>After a limited core vitrectomy is completed, 50mcg/0.1ml tPA is administered intravitreally and allowed to take effect with a 15-minute lights-out period. A fluid-fluid exchange is then carried out to lavage the inflammatory debris and tPA from the posterior segment.</p><p><strong>Results: </strong>This technique allows for significantly improved surgical visualization and complete removal of inflammatory debris in the anterior and posterior segment.</p><p><strong>Conclusion: </strong>Increased clearance of intraocular inflammatory debris may reduce post-infection inflammatory sequalae such as posterior synechiae and preretinal membranes and achieve better surgical outcomes.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144651179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tenon's Capsule Graft as a Sealant in Pediatric Retinal Detachment.","authors":"Sengul Ozdek, Ece Ozdemir Zeydanli, Ebru Yalcin","doi":"10.1097/ICB.0000000000001788","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001788","url":null,"abstract":"<p><strong>Purpose: </strong>To describe a surgical technique utilizing an autologous tenon's capsule graft, in four cases of complex retinal detachments associated with infantile high myopic macular holes (MH), Morning Glory Syndrome (MGS), and an optic disc pit maculopathy.</p><p><strong>Methods: </strong>Tenon's capsule was exposed following conjunctival incision, separated from the episcleral tissue, and excised to appropriate sizes. The tenon grafts were then inserted through a sclerotomy and positioned over the MH (2 eyes) and the excavation of the morning glory disc (1 eye), and implanted over the optic disc pit (1 eye) under a small PFCL buble. Silicone oil tamponade was used in all cases.</p><p><strong>Results: </strong>All cases achieved successful retinal reattachment and demonstrated stable integration of the Tenon's capsule grafts over a follow-up of more than 6 months, with no signs of infection or inflammation. Silicone oil was removed in MH cases and the grafts remained stable.</p><p><strong>Conclusion: </strong>Tenon's capsule transplantation emerges as a promising alternative sealing material in pediatric vitreoretinal surgery, offering potential advantages in terms of availability, stability, and efficacy. Further validation through larger studies across diverse retinal pathologies is warranted to ascertain its broader applicability and impact on visual function.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585614","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Uveal Effusion in Neuroendocrine Carcinoma Metastatic to the Choroid Treated with Gamma Knife Stereotactic Radiosurgery.","authors":"Ogul E Uner, Andrew Y Kee, Aristomenis Thanos","doi":"10.1097/ICB.0000000000001787","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001787","url":null,"abstract":"<p><strong>Purpose: </strong>To report the use of Gamma Knife stereotactic radiosurgery in the treatment of refractory uveal effusion in the setting of choroidal metastasis and checkpoint inhibitor therapy.</p><p><strong>Methods: </strong>Review of a case of metastatic bronchial neuroendocrine carcinoma to the choroid that developed refractory unilateral uveal effusion after checkpoint inhibitor therapy initiation.</p><p><strong>Results: </strong>A 47-year-old Caucasian female with stage T1bN3M1 bronchial neuroendocrine carcinoma metastatic to the brain and stage 1A, grade 1 endometrial carcinoma status post hysterectomy was referred to the retina service for evaluation of a choroidal mass identified in brain MRI. Two weeks after starting atezolizumab, vision declined to 20/200 with new serous uveal effusion solely in the left eye. Systemic therapy was continued as it was life-prolonging, but the uveal effusion was refractory to topical and periocular corticosteroids. Gamma Knife stereotactic radiosurgery was delivered to the left choroidal metastasis, with resolution of the uveal effusions within 2 weeks. The patient completed her last cycle of atezolizumab, vision remained stable, and no new effusions were noted 1 month after radiotherapy.</p><p><strong>Conclusion: </strong>Checkpoint inhibitor-associated uveal effusion can occur in eyes with intraocular metastases, presumably due to a crosstalk between the tumor microenvironment and the immune system. Gamma Knife radiotherapy to solitary choroidal metastases may aid in rapid resolution of refractory uveal effusions, especially in patients who cannot stop the life-prolonging treatment.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585615","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spontaneous Resolution of Ptosis Following Scleral Buckling.","authors":"Justin C Muste, Catherine J Hwang, Joseph Abraham, Devon A Cohen, Sumit Sharma","doi":"10.1097/ICB.0000000000001786","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001786","url":null,"abstract":"<p><strong>Purpose: </strong>To describe a case of complete acquired ptosis following scleral buckling with spontaneous resolution.</p><p><strong>Methods: </strong>44-year-old otherwise healthy female underwent placement of 4050 scleral buckle, cryotherapy, and injection of 0.3 mL 100% C3F8 for a superior rhegmatogenous retinal detachment. She developed transient, acquired, isolated, complete ptosis that resolved spontaneously by post operative month three.</p><p><strong>Results: </strong>Ptosis resolved by post operative month three.</p><p><strong>Conclusions: </strong>This case of complete ptosis after scleral buckling would assist vitreoretinal surgeons in counseling patients on their post-operative care.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}