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

EXTENSIVE SUBRETINAL FIBROSIS ASSOCIATED WITH PSEUDOXANTHOMA ELASTICUM. 伴有假黄瘤的广泛视网膜下纤维化。

Retinal Cases and Brief Reports Pub Date : 2024-07-01 DOI: 10.1097/ICB.0000000000001425

Enny Oyeniran, Henry Wiley, Sunil Bellur, H Nida Sen, Carlos R Ferreira, Emily Y Chew, Shilpa Kodati

{"title":"EXTENSIVE SUBRETINAL FIBROSIS ASSOCIATED WITH PSEUDOXANTHOMA ELASTICUM.","authors":"Enny Oyeniran, Henry Wiley, Sunil Bellur, H Nida Sen, Carlos R Ferreira, Emily Y Chew, Shilpa Kodati","doi":"10.1097/ICB.0000000000001425","DOIUrl":"10.1097/ICB.0000000000001425","url":null,"abstract":"Purpose: The purpose of this study was to report an unusual case of pseudoxanthoma elasticum presenting with an inflammatory phenotype associated with atypical and rapidly progressive subretinal fibrosis.Methods: This was an observational case report.Results: A patient with a history of pseudoxanthoma elasticum presented with rapidly progressive subretinal fibrosis, particularly in the left eye, over the course of one year. The patient was noted at presentation to have intraocular inflammation, outer retinal attenuation, multifocal choroiditis-like lesions, and intraretinal fluid (in the absence of obvious clinical or angiographic signs of exudative choroidal neovascular membranes). An ocular inflammatory phenotype was diagnosed, and the patient was treated with a combination of local steroids and systemic corticosteroids/immunomodulatory agents. After initiation of these agents, the patient demonstrated functional and structural improvement, with partial outer retinal reconstitution, decreased intraretinal fluid, and lack of further progression of subretinal fibrosis.Conclusion: This report describes an inflammatory phenotype of pseudoxanthoma elasticum associated with severe and atypical subretinal fibrosis. This case expands upon the currently known spectrum of inflammatory phenotypes associated with pseudoxanthoma elasticum. Treatment with corticosteroids or immunomodulatory treatment should be considered in similar cases.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11340264/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9275154","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

PRIMARY VITREORETINAL LYMPHOMA MASQUERADING AS POSTOPERATIVE ENDOPHTHALMITIS IN A PREGNANT PATIENT WITH LONG-STANDING IDIOPATHIC PANUVEITIS. 一名长期患有特发性泛葡萄膜炎的怀孕患者术后眼内炎假扮为原发性玻璃体视网膜淋巴瘤。

Retinal Cases and Brief Reports Pub Date : 2024-07-01 DOI: 10.1097/ICB.0000000000001430

Sri Meghana Konda, Jordan D Deaner, Alan D Proia, Glenn J Jaffe

{"title":"PRIMARY VITREORETINAL LYMPHOMA MASQUERADING AS POSTOPERATIVE ENDOPHTHALMITIS IN A PREGNANT PATIENT WITH LONG-STANDING IDIOPATHIC PANUVEITIS.","authors":"Sri Meghana Konda, Jordan D Deaner, Alan D Proia, Glenn J Jaffe","doi":"10.1097/ICB.0000000000001430","DOIUrl":"10.1097/ICB.0000000000001430","url":null,"abstract":"Purpose: To report primary vitreoretinal lymphoma after surgical 0.59 mg fluocinolone acetonide implant (FAi) exchange in a patient treated with adalimumab for idiopathic bilateral panuveitis.Methods: Retrospective case review.Results: A 37-year-old woman with bilateral idiopathic panuveitis, who had favorable responses to previous FAi surgical implants, presented with right eye recurrent intraocular inflammation and cystoid macular edema that partially responded to systemic adalimumab. Her FAi was replaced, given her previous favorable response. She developed postoperative ocular inflammation transiently responsive to two serial vitreous taps and injections of intravitreal antimicrobials and then worsening inflammation and new layered flocculant material. Diagnostic vitrectomy showed a few atypical lymphocytes and cultures were negative. At postdiagnostic vitrectomy Month 1, flocculant material recurred. Aqueous cytology and flow cytometry revealed large CD45-positive B cells suspicious for lymphoma. Postoperatively, she revealed that she was pregnant. She was treated with eight monthly intravitreal methotrexate injections and postpartum consolidation radiotherapy. Subsequent repeat cytology, flow cytometry, and corneal pathologic examination revealed large B cells that were CD20 positive, and next-generation sequencing detected a dominant monoclonal B-cell population, diagnostic of PVRL. Nineteen months after FAi exchange, she developed an area of enhancement in the lateral aspect of the right frontal lobe on brain MRI, consistent with central nervous system involvement.Conclusion: The authors present a unique case of PVRL masquerading as postoperative endophthalmitis after FAi exchange in an eye with chronic panuveitis treated with adalimumab immunosuppressive therapy. The authors hypothesize that there may be a causal relationship between adalimumab and PVRL.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9327601","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

HIGH-RESOLUTION IMAGING OF THE OUTER RETINA IN TYPE 2 ACUTE MACULAR NEURORETINOPATHY. 2型急性黄斑神经视网膜病变外层视网膜的高分辨率成像。

Retinal Cases and Brief Reports Pub Date : 2024-07-01 DOI: 10.1097/ICB.0000000000001423

Nathan Doble, Elaine M Wells-Gray, Matthew P Ohr, Stacey S Choi

{"title":"HIGH-RESOLUTION IMAGING OF THE OUTER RETINA IN TYPE 2 ACUTE MACULAR NEURORETINOPATHY.","authors":"Nathan Doble, Elaine M Wells-Gray, Matthew P Ohr, Stacey S Choi","doi":"10.1097/ICB.0000000000001423","DOIUrl":"10.1097/ICB.0000000000001423","url":null,"abstract":"Purpose: The purpose of this study was to investigate the outer retinal changes in a patient with type 2 acute macular neuroretinopathy (AMN).Methods: A 35-year-old White woman complaining of a unilateral blind spot was imaged using various retinal imaging modalities including clinical optical coherence tomography (OCT), OCT-angiography, fundus fluorescein angiography, and adaptive optics (AO).Results: Fundus examination revealed multiple paracentral reddish brown petaloid lesions in the symptomatic left eye, while the other eye was unremarkable. Clinical OCT showed areas of hyperreflectance at the outer plexiform layer/outer nuclear layer complex with a disrupted inner/outer segment junction, which are characteristic features of type 2 AMN. AO imaging further revealed either shortening or absence of cone outer segments within the AMN lesions attributing to the darker features observed in the en face images from fundus photography and scanning laser ophthalmoscopy.Conclusion: The AO findings indicate that the petaloid lesions in type 2 AMN are caused by a combination of the shortening and absence of the outer segment in individual cone photoreceptors.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9574649","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

Widefield Swept-Source OCTA Findings in HELLP Syndrome: Choroidal Infarcts. HELLP 综合征的宽场扫源 OCTA 发现：脉络膜梗塞

Retinal Cases and Brief Reports Pub Date : 2024-05-28 DOI: 10.1097/ICB.0000000000001608

Luis Martinez-Velazquez, Tedi Begaj, Itika Garg, Paul Zhou, Sandra Hoyek, Karen M Wai, John B Miller, Nimesh A Patel

{"title":"Widefield Swept-Source OCTA Findings in HELLP Syndrome: Choroidal Infarcts.","authors":"Luis Martinez-Velazquez, Tedi Begaj, Itika Garg, Paul Zhou, Sandra Hoyek, Karen M Wai, John B Miller, Nimesh A Patel","doi":"10.1097/ICB.0000000000001608","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001608","url":null,"abstract":"Purpose: Pre-eclampsia, eclampsia, and hemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome have been previously implicated with ophthalmic complications including serous retinal detachments and disorders of the choroidal vasculature. Herein, we report a case of macular serous detachment associated with HELLP syndrome in which wide field swept-source optical coherence tomography angiography (WF SS-OCTA) was used.Methods: Retrospective case report of a patient who developed HELLP syndrome. The patient underwent multimodal retinal imaging and wide field swept-source OCT angiography (WF SS-OCTA) (PLEX® Elite 9000, Carl Zeiss Meditec Inc.).Results: A 36-year-old female patient diagnosed with HELLP syndrome presented with bilateral blurry vision. At presentation, dilated fundus exam revealed localized subretinal fluid in the macula. WF SS-OCTA showed areas of peripapillary and subfoveal flow signal attenuation in the choroid OD, consistent with choroidal infarction.Conclusions: These findings support the hypothesis that HELLP syndrome is associated with vascular changes that lead to choroidal dysfunction and subsequent serous retinal detachments. Furthermore, this case highlights a role for the non-invasive WF SS-OCTA technology in diagnosing and further characterizing the pathophysiology without the use of dye-based angiography.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141983892","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

TWO CASES OF VON HIPPEL-LINDAU SYNDROME-ASSOCIATED RETINAL HEMANGIOBLASTOMA TREATED WITH BELZUTIFAN. 用贝珠替凡治疗两例冯-希佩尔-林道综合征相关视网膜血管母细胞瘤。

Retinal Cases and Brief Reports Pub Date : 2024-05-01 DOI: 10.1097/ICB.0000000000001376

Joseph M Grimes, Alexandera Gershkovich, Dmitry Bogomolny, Brian P Marr

{"title":"TWO CASES OF VON HIPPEL-LINDAU SYNDROME-ASSOCIATED RETINAL HEMANGIOBLASTOMA TREATED WITH BELZUTIFAN.","authors":"Joseph M Grimes, Alexandera Gershkovich, Dmitry Bogomolny, Brian P Marr","doi":"10.1097/ICB.0000000000001376","DOIUrl":"10.1097/ICB.0000000000001376","url":null,"abstract":"Purpose: To describe two cases of retinal hemangioblastoma regression following treatment with belzutifan in patients with von Hippel-Lindau syndrome.Methods: Clinical information was extracted from the charts and tumor imaging of two patients with von Hippel-Lindau-associated retinal hemangioblastoma.Results: In Case 1, a 40-year-old man was treated with belzutifan for spine hemangioblastomas after diagnosis of a 2.0 × 2.0 × 1.3 mm left-eye retinal hemangioblastoma temporal to the macula associated with intraretinal edema, subretinal fluid, and mild retinal traction. In Case 2, a 66-year-old woman presented with a right eye 2.0 × 1.5 × 1.3 mm juxtapapillary lesion with subretinal fluid, intraretinal fluid, and nasal traction, and a 4.0 × 3.5 × 1.1 mm inferior midperiphery lesion with subretinal fluid, intraretinal fluid, and active exudation. She was treated for 2.5 years with belzutifan for renal cell carcinoma on the National Institutes of Health trial. The patient in case 1 demonstrated a 10% reduction in largest tumor diameter and 8% reduction in thickness, along with improving subretinal fluid, intraretinal edema, and retinal traction, after 4 weeks of treatment. After 2.5 years of treatment, the patient in Case 2 demonstrated similar margins of her now fibrotic-appearing juxtapapillary lesion with a 45% reduction in thickness, along with resolved subretinal fluid and greatly improved intraretinal fluid and traction. The inferior lesion demonstrated 12.5% reduction in largest diameter, 36% reduction in thickness, and was without active subretinal fluid or exudation. Neither patient demonstrated new lesions while on treatment.Conclusion: Belzutifan is a promising treatment for retinal hemangioblastoma with the potential for both rapid and sustained tumor regression.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9209549","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

RECURRENT OPTIC DISC PIT MACULOPATHY DUE TO VALSALVA'S MANEUVER. 瓦尔萨尔瓦手法导致的复发性视盘凹陷性黄斑病变。

Retinal Cases and Brief Reports Pub Date : 2024-05-01 Epub Date: 2023-01-13 DOI: 10.1097/ICB.0000000000001401

Francyne Veiga Reis Cyrino, Joao Pedro Guzzi Marques, Rodrigo Jorge

{"title":"RECURRENT OPTIC DISC PIT MACULOPATHY DUE TO VALSALVA'S MANEUVER.","authors":"Francyne Veiga Reis Cyrino, Joao Pedro Guzzi Marques, Rodrigo Jorge","doi":"10.1097/ICB.0000000000001401","DOIUrl":"10.1097/ICB.0000000000001401","url":null,"abstract":"Purpose: We report a patient with recurrent optic disc pit (ODP) maculopathy after Valsalva's maneuver and discuss its pathophysiology. We also hypothesize the role of Valsalva's maneuver in its genesis.Method: Case report of one patient, male, 12 years old.Results: Serous retinal detachment may occur in association with the ODP, a developmental anomaly of the optic nerve head. Histopathologically, it consists of a dysplastic retina herniation into a pocket extending posteriorly through a defect in the lamina cribrosa into the subarachnoid space. These three different compartments-intraocular space, optic nerve head, and subarachnoid space-and the dynamic interactions among them should be understood as the key factors for the occurrence of ODP-related serous retinal detachment.Conclusion: Based on the possibility that serous retinal detachment secondary to the ODP could be related to the Valsalva's maneuver, we strongly recommend that patients with ODP be advised to avoid intense physical or work activities that may increase abdominal, thoracic, and cerebral pressure and to refrain from playing wind instruments to avoid pretreatment, per treatment, and post-treatment intercurrences.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11027969/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10656822","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

NOVEL RETINAL FINDINGS IN A PATIENT WITH AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2A. 一名 2A 型常染色体隐性皮肤松弛症患者的视网膜新发现。

Retinal Cases and Brief Reports Pub Date : 2024-05-01 DOI: 10.1097/ICB.0000000000001399

Mohammad Abdullah, Talal Alabduljalil

{"title":"NOVEL RETINAL FINDINGS IN A PATIENT WITH AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2A.","authors":"Mohammad Abdullah, Talal Alabduljalil","doi":"10.1097/ICB.0000000000001399","DOIUrl":"10.1097/ICB.0000000000001399","url":null,"abstract":"Purpose: To report a case of autosomal recessive cutis laxa type 2A with novel retinal findings.Methods: Case report.Results: A 22-year-old female patient presented with a long-standing history of reduced visual acuity in her right eye. She has generalized redundant skin, downslanting of palpebral fissures, and long philtrum. Ophthalmic examination showed ptosis in her right eye and visual acuity of 20/2000 in the right eye and 20/30p in the left eye. Funduscopic examination showed a round macular scar lesion in the right eye macula and a chorioretinal scar superonasally in the left eye. Multimodal imaging showed macular atrophy in the right eye with speckled hypoautofluorescence of the described lesions. Genetic testing showed a homozygous splice acceptor variant of the ATP6V0A2 gene.Conclusion: The natural history of the presented pigmentary lesions is not known, and further follow-up is needed to assess any progressive nature. Our case adds to the variability of ophthalmic manifestations reported in autosomal recessive cutis laxa type 2A and, therefore, to the importance of regular ophthalmic surveillance in patients with cutis laxa.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10607631","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

GIANT INTRAOPERATIVE CORNEAL BULLA MANAGED WITH BANDAGE LENS TECHNIQUE DURING VITRECTOMY SURGERY. 在玻璃体切除手术中使用绷带透镜技术处理术中巨大角膜囊肿

Retinal Cases and Brief Reports Pub Date : 2024-05-01 DOI: 10.1097/ICB.0000000000001394

Amy Yuan, Alyssa C Bonnell, Kasra A Rezaei

引用次数: 0

INDOCYANINE GREEN ANGIOGRAPHY-GUIDED PHOTOCOAGULATION OF LARGE MICROVASCULAR ABNORMALITIES ("TELCAPS") IN A PATIENT WITH PERSISTENT MACULA EDEMA IN THE CONTEXT OF RADIATION RETINOPATHY. 在吲哚菁绿血管造影术引导下，对一名辐射性视网膜病变黄斑持续水肿患者的大面积微血管异常（"TelCaps"）进行光凝治疗。

Retinal Cases and Brief Reports Pub Date : 2024-05-01 Epub Date: 2024-04-18 DOI: 10.1097/ICB.0000000000001378

Elise L Perrin, Rowan G B Porter

{"title":"INDOCYANINE GREEN ANGIOGRAPHY-GUIDED PHOTOCOAGULATION OF LARGE MICROVASCULAR ABNORMALITIES (\"TELCAPS\") IN A PATIENT WITH PERSISTENT MACULA EDEMA IN THE CONTEXT OF RADIATION RETINOPATHY.","authors":"Elise L Perrin, Rowan G B Porter","doi":"10.1097/ICB.0000000000001378","DOIUrl":"10.1097/ICB.0000000000001378","url":null,"abstract":"Purpose: The purpose of this report is to describe a patient with radiation retinopathy who responded to indocyanine green angiography (ICGA)-guided photocoagulation as treatment for persistent macula edema secondary to TelCaps, a newly defined type of large microvascular abnormality.Methods: Retrospective case report.Results: A 40-year-old man with a history of bilateral retinoblastoma and right enucleation presented with decreased vision in the left eye secondary to macula edema. Examination revealed radiation retinopathy with a cluster of ICGA-avid large microaneurysms temporal to the macula. The patient did not respond to treatment with intravitreal bevacizumab or triamcinolone. Complete resolution of macula edema was demonstrated after two rounds of ICGA-guided focal photocoagulation to the aforementioned microaneurysm cluster. No subsequent or adjunctive intravitreal injections of anti-VEGF were required, and there was no recurrence of the TelCaps lesions at follow-up to eight years.Conclusion: TelCaps are large microvascular abnormalities with high affinity for ICG. These lesions may not have been recognized because of difficulties in their detection on routine examination and with investigations including ocular coherence tomography angiogram and fluorescein angiogram. Early evidence supports their role in macula edema that is not responsive to intravitreal injections of anti-VEGF. ICGA-guided photocoagulation of TelCaps lesions can result in resolution of macula edema. To our knowledge, this is the first reported case of TelCaps secondary to radiation retinopathy.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11027980/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10687752","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

ANATOMICAL AND FUNCTIONAL OUTCOMES OF BEVACIZUMAB TREATMENT IN PEDIATRIC AUTOSOMAL RECESSIVE BESTROPHINOPATHY. 贝伐单抗治疗小儿常染色体隐性葡萄胎病的解剖和功能结果。

Retinal Cases and Brief Reports Pub Date : 2024-05-01 Epub Date: 2023-12-07 DOI: 10.1097/ICB.0000000000001390

Mitchell Jacobs, May El-Rashedy, Nicholas Fowler, Belinda Shirkey, John Kitchens, Ramiro S Maldonado

{"title":"ANATOMICAL AND FUNCTIONAL OUTCOMES OF BEVACIZUMAB TREATMENT IN PEDIATRIC AUTOSOMAL RECESSIVE BESTROPHINOPATHY.","authors":"Mitchell Jacobs, May El-Rashedy, Nicholas Fowler, Belinda Shirkey, John Kitchens, Ramiro S Maldonado","doi":"10.1097/ICB.0000000000001390","DOIUrl":"10.1097/ICB.0000000000001390","url":null,"abstract":"Purpose: The purpose of this study was to report functional and anatomical outcomes of anti-VEGF treatment in eyes with autosomal recessive bestrophinopathy (ARB) presenting in the first decade of life.Methods: The study included case series of four eyes from two siblings with compound heterozygous mutations in the BEST1 gene who were treated with eight monthly intravitreal bevacizumab injections. Response to treatment was analyzed using color fundus photography, fundus autofluorescence, optical coherence tomography, OCT angiography, and microperimetry.Results: Patient 1 (male, age 9 years) had visual acuity of 20/20 in the right eye and 20/50 in the left eye. Patient 2 (female, age 10 years) had visual acuity of 20/25 in the right eye and 20/20 in the left eye. All eyes had multifocal subretinal deposition of lipofuscin and subretinal fluid, and three eyes had choroidal neovascularization (CNV). Lipofuscin material reabsorbed in 2 of 4 eyes, the CNV regressed in 3 of 3 eyes, a bacillary detachment resolved in 1 of 1 eye, but the subretinal fluid did not change. Functional improvement in visual acuity was noted, but MP showed scattered areas of reduced retinal sensitivity. No ocular or systemic side effects were detected.Conclusion: Anti-VEGF treatment of choroidal neovascularization in eyes with ARB resulted in anatomical changes that were only clinically significant in the eye with decreased visual acuity. The hyporeflective subretinal material remained unchanged suggesting a nonexudative cause. These findings provide new insights into the management of ARB, especially in pediatric subjects with CNV.","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11027967/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10782985","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