Retinal Cases and Brief Reports最新文献_第8页

NOVEL OUTER RETINAL COLUMNAR ABNORMALITIES AND NONVASOGENIC CYSTOID MACULAR EDEMA IN DENSE DEPOSIT DISEASE. 致密沉积疾病中的新型视网膜外柱异常（ORCA）和非血管性囊状黄斑水肿。

Retinal Cases and Brief Reports Pub Date : 2025-01-01 DOI: 10.1097/ICB.0000000000001488

Claudia Liang-Peng, Abraham Olvera-Barrios, Roy Schwartz, Gabriela Grimaldi, Catherine Egan, Adnan Tufail

{"title":"NOVEL OUTER RETINAL COLUMNAR ABNORMALITIES AND NONVASOGENIC CYSTOID MACULAR EDEMA IN DENSE DEPOSIT DISEASE.","authors":"Claudia Liang-Peng, Abraham Olvera-Barrios, Roy Schwartz, Gabriela Grimaldi, Catherine Egan, Adnan Tufail","doi":"10.1097/ICB.0000000000001488","DOIUrl":"10.1097/ICB.0000000000001488","url":null,"abstract":"Purpose: To describe the occurrence of bilateral outer retinal columnar abnormalities, nonvasogenic cystoid macular edema, and drusen in the context of dense deposit disease.Methods: Case report.Patient: An 18-year-old girl with dense deposit disease was referred to our specialist center for diagnosis and management with findings consistent with bilateral nonvasogenic cystoid macular edema and drusen. She was followed-up in our clinic for 40 months and treated with acetazolamide and ketorolac drops.Results: Baseline examination revealed bilateral visual acuity reduction and macular elevation with peripapillary drusen on fundus biomicroscopy. Optical coherence tomography revealed bilateral hyporeflective cystoid central macula changes, microcystoid changes with increased central subfield thickness (>450 μm), and outer retinal columnar abnormalities. Fluorescein angiography showed no evidence of macular leakage. Electrodiagnostic testing was within normal limits. Over the course of follow-up, she received treatment with acetazolamide 250 mg twice a day by mouth and ketorolac 0.5% eye drops, with a partial reduction in her edema and improvement in visual acuity.Conclusion: Dense deposit disease is a rare disease secondary to complement cascade dysregulation, associated with drusen. To the best of our knowledge, this is the first report of bilateral nonvasogenic cystoid macular edema and outer retinal columnar abnormalities in a young female patient with dense deposit disease, confirmed with multimodal imaging.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"54-59"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41240865","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}

引用次数: 0

RETRACTION OF CYSTOID MACULAR EDEMA FROM THE FOVEA AFTER INTRAVITREAL ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR THERAPY FOR BIRDSHOT CHORIORETINOPATHY. 鸟射性脉络膜视网膜病变玻璃体内抗vegf治疗后囊样黄斑水肿从中央窝缩回。

Retinal Cases and Brief Reports Pub Date : 2025-01-01 DOI: 10.1097/ICB.0000000000001504

Shakoor Ba-Ali, Josefine Fuchs, Michael Larsen

{"title":"RETRACTION OF CYSTOID MACULAR EDEMA FROM THE FOVEA AFTER INTRAVITREAL ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR THERAPY FOR BIRDSHOT CHORIORETINOPATHY.","authors":"Shakoor Ba-Ali, Josefine Fuchs, Michael Larsen","doi":"10.1097/ICB.0000000000001504","DOIUrl":"10.1097/ICB.0000000000001504","url":null,"abstract":"Purpose: To report the effect of anti-vascular endothelial growth factor inhibitor on fovea-involving cystoid macular edema in a patient with Birdshot chorioretinopathy.Methods: A 42-year-old male patient presented to our hospital with bilateral posterior uveitis with retinal vasculitis, cystoid macular edema, and optic disk edema. He was diagnosed with birdshot chorioretinopathy based on clinical appearance and tissue type HLA-A29.Results: The patient underwent vitrectomy in the right eye without any change in visual acuity. Retinal leakage was reduced by oral prednisolone, which could not be tapered below 50 mg per day without relapse. Oral prednisolone, topical dexamethasone, and subtenon Kenalog were associated with intraocular pressure rise in both eyes. Hence, his uveitis responded to steroids, but there was no detectable effect of any steroid-sparing immunomodulatory drugs. The patient had been on oral prednisolone 50 mg for five years when it was decided to attempt intravitreal vascular endothelial growth factor inhibitor injection therapy. The anti-vascular endothelial growth factor therapy diminished cystoid macular edema in the fovea and improved the visual acuity.Conclusion: Here, we report for the first time the long-term outcomes of anti-vascular endothelial growth factor injections on fovea-involving cystoid macular edema in Birdshot chorioretinopathy to keep steroid at the minimal possible doses and preserve a satisfying visual acuity level.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"95-98"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50159258","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}

引用次数: 0

COMPLETE RESOLUTION OF SUBRETINAL FLUID OF THE FELLOW EYE AFTER AFLIBERCEPT INJECTION IN WET AGE-RELATED MACULAR DEGENERATION. 湿性黄斑变性患者注射阿布西普后同眼视网膜下液完全溶解。

Retinal Cases and Brief Reports Pub Date : 2025-01-01 DOI: 10.1097/ICB.0000000000001515

Alexandros Rouvas, Panagiotis Theodossiadis, Ilias Georgalas, Nikolaos Gouliopoulos

{"title":"COMPLETE RESOLUTION OF SUBRETINAL FLUID OF THE FELLOW EYE AFTER AFLIBERCEPT INJECTION IN WET AGE-RELATED MACULAR DEGENERATION.","authors":"Alexandros Rouvas, Panagiotis Theodossiadis, Ilias Georgalas, Nikolaos Gouliopoulos","doi":"10.1097/ICB.0000000000001515","DOIUrl":"10.1097/ICB.0000000000001515","url":null,"abstract":"Purpose: To present a case of a patient with bilateral wet age-related macular degeneration who was unilaterally treated with intravitreal aflibercept injections (IAIs) and the disease status in the fellow eye ameliorated after an IAI.Methods: Retrospective case report.Results: A 72-year-old woman was diagnosed with wet and dry age-related macular degeneration in her right eye and left eye, respectively. In the right eye, treatment strategy comprised three monthly IAIs, followed by reinjections according to need, whereas optical coherence tomography scans were performed before IAIs. One month after the second IAI, subretinal fluid developed in the left eye. One week later, an IAI was applied in the right eye; 2 days later, the disease status in the left eye was assessed by fluorescein angiography and optical coherence tomography. Surprisingly, in the left eye, subretinal fluid completely resolved and fluorescein angiography did not detect leakage, highlighting the absence of an active choroidal neovascularization. The short interval between IAI and the resolution of exudative phenomena in the other eye is suggestive of a beneficial effect in the contralateral eye.Conclusion: In this article, we showed that an IAI had an effect to the fellow untreated eye. Our observation is consistent with active aflibercept in the systemic circulation. To the best of our knowledge, no other report in the literature has demonstrated this effect of aflibercept in wet age-related macular degeneration.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"125-128"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136400292","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}

引用次数: 0

PLASMA CIRCULATING TUMOR DNA TO ASSIST IN THE DIAGNOSIS OF UNKNOWN PRIMARY MALIGNANCY UNDERLYING CHOROIDAL METASTASES. 用血浆循环肿瘤 DNA 协助诊断脉络膜转移瘤的未知原发性恶性肿瘤

Retinal Cases and Brief Reports Pub Date : 2025-01-01 DOI: 10.1097/ICB.0000000000001518

Jasmine H Francis, Sara Levine, Julia Canestraro, Juliana Eng, David H Abramson

{"title":"PLASMA CIRCULATING TUMOR DNA TO ASSIST IN THE DIAGNOSIS OF UNKNOWN PRIMARY MALIGNANCY UNDERLYING CHOROIDAL METASTASES.","authors":"Jasmine H Francis, Sara Levine, Julia Canestraro, Juliana Eng, David H Abramson","doi":"10.1097/ICB.0000000000001518","DOIUrl":"10.1097/ICB.0000000000001518","url":null,"abstract":"Purpose: Management of suspected choroidal metastases requires diagnostic imaging and an invasive, sometimes intraocular, biopsy to determine the primary malignancy. This multistep process takes time, which may affect morbidity and mortality.Methods: This was a retrospective review of one case.Results: A 56-year-old woman presented with bilateral amelanotic choroidal masses suspicious for metastases of unknown origin. Plasma circulating tumor DNA revealed EGFR , PTEN , and SMAD4 , a profile consistent with non-small-cell lung cancer. Subsequent radiographic imaging and scapular biopsy revealed lung adenocarcinoma and genetic profile concordant with the liquid biopsy. The patient was started on EGFR inhibitor, osimertinib, with measurable systemic and ocular response.Conclusion: Plasma circulating tumor DNA revealed the genetic profile of the primary malignancy underlying choroidal metastases of unknown origin, aiding in the prompt diagnosis and detecting the driver mutation that guided management with targeted therapy.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"46-49"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138803913","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}

引用次数: 0

RETINAL PIGMENT EPITHELIAL DETACHMENTS DEVOID OF RETINAL PIGMENT EPITHELIUM. 视网膜色素上皮脱离视网膜色素上皮缺失。

Retinal Cases and Brief Reports Pub Date : 2025-01-01 DOI: 10.1097/ICB.0000000000001499

Alfredo Salcedo-Ledesma, Gerardo Ledesma-Gil, Yariv Keshet, Richard F Spaide

{"title":"RETINAL PIGMENT EPITHELIAL DETACHMENTS DEVOID OF RETINAL PIGMENT EPITHELIUM.","authors":"Alfredo Salcedo-Ledesma, Gerardo Ledesma-Gil, Yariv Keshet, Richard F Spaide","doi":"10.1097/ICB.0000000000001499","DOIUrl":"10.1097/ICB.0000000000001499","url":null,"abstract":"Purpose: To describe two patients with chronic central serous chorioretinopathy showing what appeared to be retinal pigment epithelium detachments lacking imaging findings consistent with retinal pigment epithelium (RPE) over the elevation.Methods: The patients underwent comprehensive ophthalmic examination, including multicolor fundus photography, fundus autofluorescence, and spectral-domain optical coherence tomography.Results: A 70-year-old man and a 58-year-old man, diagnosed with chronic central serous chorioretinopathy, showed pigment epithelium detachment-like lesions that were hypoautofluorescent, suggesting an absence of RPE. Spectral-domain optical coherence tomography B scans showed serous, dome-shaped elevations composed of a narrow, mildly hyperreflective band (9-10- µ m thick) that demonstrated hypertransmission of light. The material that constituted the elevation was contiguous with the outer portion of the RPE band at the lesion borders.Conclusion: Based on the multimodal imaging findings, we hypothesize that these pigment epithelial detachments have lost the RPE. A thin layer of material that could represent a residual layer of basal laminar deposit produced by the RPE remains overlying the detachments, possibly accounting for their dome shape and structural stability.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41156485","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}

引用次数: 0

A CASE OF ELSCHNIG SPOTS OBSERVED USING OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY AFTER STENTING FOR INTERNAL CAROTID ARTERY DISSECTION. 一例颈内动脉夹层支架置入术后使用光学相干断层扫描血管造影术观察到的Elschnig斑点。

Retinal Cases and Brief Reports Pub Date : 2025-01-01 DOI: 10.1097/ICB.0000000000001496

Kazuma Saito, Yuto Uchida, Shunsuke Tokui, Hideo Akiyama

{"title":"A CASE OF ELSCHNIG SPOTS OBSERVED USING OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY AFTER STENTING FOR INTERNAL CAROTID ARTERY DISSECTION.","authors":"Kazuma Saito, Yuto Uchida, Shunsuke Tokui, Hideo Akiyama","doi":"10.1097/ICB.0000000000001496","DOIUrl":"10.1097/ICB.0000000000001496","url":null,"abstract":"Purpose: We report the case of a 28-year-old man who developed Elschnig spots after stenting for an internal carotid artery dissection using optical coherence tomography angiography.Methods: This was a case report.Results: The patient developed a visual field defect in the left eye immediately after endovascular stenting for left internal carotid artery dissection. Fundus examination revealed white lesions and numerous mottled orange-red lesions in the posterior pole and midperiphery of the left eye. Indocyanine green angiography revealed mottled hypofluorescein areas in the early and late stages, coinciding with the orange-red lesions. Optical coherence tomography angiography showed flow void areas in the choriocapillaris layer, consistent with the orange-red lesions, which were diagnosed as Elschnig spots associated with choroidal circulatory failure. The spots disappeared approximately 2 months after surgery, and the flow void on optical coherence tomography angiography also disappeared.Conclusion: We report a case of Elschnig spots associated with transient choroidal circulatory failure after stenting for internal carotid artery dissection. Optical coherence tomography angiography detected improved circulation at the level of the choriocapillaris with the disappearance of Elschnig spots.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"60-65"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41174755","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}

引用次数: 0

TRANSDIFFERENTIATION AND INTRACHOROIDAL MIGRATION OF MELANOTIC RETINAL PIGMENT EPITHELIUM IN PUNCTATE INNER CHOROIDITIS. 点状内脉络膜炎黑色素视网膜色素上皮的转分化和脉络膜内迁移。

Retinal Cases and Brief Reports Pub Date : 2025-01-01 DOI: 10.1097/ICB.0000000000001514

Jacques Bijon, K Bailey Freund

{"title":"TRANSDIFFERENTIATION AND INTRACHOROIDAL MIGRATION OF MELANOTIC RETINAL PIGMENT EPITHELIUM IN PUNCTATE INNER CHOROIDITIS.","authors":"Jacques Bijon, K Bailey Freund","doi":"10.1097/ICB.0000000000001514","DOIUrl":"10.1097/ICB.0000000000001514","url":null,"abstract":"Purpose: The objective of this study was to report the multimodal imaging features of hyperpigmented chorioretinal lesions originating from the retinal pigment epithelium within punched-out lesions of punctate inner choroidopathy.Methods: This was a retrospective case report. Multimodal imaging findings including fundus photography, optical coherence tomography, and optical coherence tomography-angiography were analyzed.Results: A 49-year-old woman with myopic degeneration developed progressive lesions of punctate inner choroidopathy, requiring immunosuppressive therapy with adalimumab. Within the areas of punched-out chorioretinal atrophic lesions, the occurrence of hyperpigmented lesions was observed, which enlarged and extended into the choroid over a multiyear follow-up.Conclusion: This case illustrates the development of pigmented choroidal lesions appearing to originate from the retinal pigment epithelium through transdifferentiation after previous chorioretinal inflammatory lesions. The introduction of adalimumab treatment may have activated the cellular migration of the retinal pigment epithelium. To the best of the authors' knowledge, this is the first report of intrachoroidal retinal pigment epithelium migration in punctate inner choroidopathy.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"5-9"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136400293","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}

引用次数: 0

CLINICAL OUTCOMES OF RHEGMATOGENOUS RETINAL DETACHMENT REPAIR IN PATIENTS WITH NYSTAGMUS. 眼球震颤患者孔源性视网膜脱离修复的临床效果。

Retinal Cases and Brief Reports Pub Date : 2025-01-01 DOI: 10.1097/ICB.0000000000001506

Ava Torjani, Abtin Shahlaee, Mirataollah Salabati, Raziyeh Mahmoudzadeh, Michael A Klufas

{"title":"CLINICAL OUTCOMES OF RHEGMATOGENOUS RETINAL DETACHMENT REPAIR IN PATIENTS WITH NYSTAGMUS.","authors":"Ava Torjani, Abtin Shahlaee, Mirataollah Salabati, Raziyeh Mahmoudzadeh, Michael A Klufas","doi":"10.1097/ICB.0000000000001506","DOIUrl":"10.1097/ICB.0000000000001506","url":null,"abstract":"Purpose: To report the anatomical and visual outcomes of rhegmatogenous retinal detachment repair in patients with congenital or acquired nystagmus.Methods: This was a case series involving a retrospective review of medical records from January 1, 2015, to April 1, 2021, of eight eyes of eight patients (seven men and one woman) with documented nystagmus who underwent rhegmatogenous retinal detachment repair. Primary outcomes included final reattachment rate and single surgery anatomical success at three months postoperatively. Secondary outcomes included final visual acuity and mean number of additional procedures required for retinal reattachment.Results: Mean age was 52.1 years (range: 14-77 years), and mean follow-up time was 18.6 months (range: 2.8-32.9 months). Pars plana vitrectomy (PPV) was performed in four patients (50.0%), scleral buckle in 3 (37.5%), and PPV/scleral buckle in 1 (12.5%). A repeat PPV was required in three eyes (37.5%) because of proliferative vitreoretinopathy, two of which initially underwent PPV, and one had PPV/scleral buckle. Two eyes (25%) required a third PPV because of proliferative vitreoretinopathy or retinal breaks. Mean time to first redetachment was 29 days. Single surgery anatomic success at three months was achieved in five patients (62.5%). Complete final retinal reattachment was achieved in all patients. Final visual acuity improved or stabilized in seven eyes (87.5%).Conclusion: Despite a 100% final retinal reattachment rate, rhegmatogenous retinal detachment repair can be challenging among patients with nystagmus, including postoperative complications such as recurrent retinal detachment because of retinal breaks. No silicone oil emulsification or related complications were observed in our series.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"70-73"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50159257","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}

引用次数: 0

RADIATION RETINOPATHY AND BENIGN LYMPHOPROLIFERATIVE ORBITAL TUMOR PRESENTING 47 YEARS AFTER TREATMENT OF HEREDITARY RETINOBLASTOMA. 遗传性视网膜母细胞瘤治疗后47年的放射性视网膜病变和良性淋巴增生性眼眶肿瘤。

Retinal Cases and Brief Reports Pub Date : 2025-01-01 DOI: 10.1097/ICB.0000000000001521

Mohammad Amr Sabbagh, Monique P Munro, William F Mieler

{"title":"RADIATION RETINOPATHY AND BENIGN LYMPHOPROLIFERATIVE ORBITAL TUMOR PRESENTING 47 YEARS AFTER TREATMENT OF HEREDITARY RETINOBLASTOMA.","authors":"Mohammad Amr Sabbagh, Monique P Munro, William F Mieler","doi":"10.1097/ICB.0000000000001521","DOIUrl":"10.1097/ICB.0000000000001521","url":null,"abstract":"Purpose: The objective of this study was to better understand the onset of radiation retinopathy and secondary orbital tumors in the setting of retinoblastoma treated with radiation and chemotherapy.Methods: This was a case report.Results: Here, the authors present a 48-year-old woman with a history of bilateral hereditary retinoblastoma after enucleation of the left eye and radiation therapy to the right eye along with systemic chemotherapy. She underwent bladder leiomyosarcoma resection at the age of 24 years. In 2020, she presented with significantly delayed radiation retinopathy complicated by cystoid macular edema, and bevacizumab injections were initiated. An incidental benign lymphoproliferative tumor in the right lacrimal gland was found on B-scan ultrasound and was successfully excised.Conclusion: It is rare for radiation retinopathy to present with significant delay after local radiation treatment, with only two other cases found in the literature describing a similar late onset. In addition, there have been no other published cases of a secondary benign lymphoproliferative tumor in the setting of retinoblastoma treated with radiation and chemotherapy.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"19-22"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138500134","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}

引用次数: 0

BEST1 VARIANT ASSOCIATED WITH AN ATYPICAL MACULAR AND PERIPHERAL RETINAL PHENOTYPE. Best1变异与非典型黄斑和周围视网膜表型相关。

Retinal Cases and Brief Reports Pub Date : 2025-01-01 Epub Date: 2023-12-05 DOI: 10.1097/ICB.0000000000001520

Srinidhi Singuri, Meghan J DeBenedictis, Elias I Traboulsi, Alex Yuan, Rebecca M Schur

{"title":"BEST1 VARIANT ASSOCIATED WITH AN ATYPICAL MACULAR AND PERIPHERAL RETINAL PHENOTYPE.","authors":"Srinidhi Singuri, Meghan J DeBenedictis, Elias I Traboulsi, Alex Yuan, Rebecca M Schur","doi":"10.1097/ICB.0000000000001520","DOIUrl":"10.1097/ICB.0000000000001520","url":null,"abstract":"Purpose: Best vitelliform macular dystrophy is an inherited macular dystrophy associated with over 250 pathogenic variants of the Bestrophin-1 ( BEST1 ) gene. Although several types of lesions of best vitelliform macular dystrophy are well-described, reports of phenotypic variations associated with rare genetic variants are limited.Methods: This was a retrospective case series performed in 2021 at a tertiary eye care center.Patients: Three members of one family referred to a tertiary eye care clinic for evaluation of their autosomal dominant macular dystrophy.Results: Study subjects presented with atypical findings of peripheral schisis-like lesions and atrophy with abnormal electroretinogram in addition to typical macular lesions found in best vitelliform macular dystrophy. Genetic analyses identified a heterozygous BEST1 c.227T>A, p.(Ile76Asn) pathogenic variant in all three subjects.Conclusion: This study represents the first report of the phenotype associated with the c.227T>A, p.(Ile76Asn) BEST1 variant, which-while mentioned twice in the literature-has not been previously described. The phenotype is unique, comprising features of typical best vitelliform macular dystrophy with electroretinogram and peripheral findings, suggestive of a panretinal dysfunction.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":"19 1","pages":"129-134"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11150326/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142856796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0