Retinal Cases and Brief Reports最新文献

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EPSTEIN-BARR VIRUS-ASSOCIATED FROSTED BRANCH ANGIITIS. eb病毒相关的霜状支血管炎。
Retinal Cases and Brief Reports Pub Date : 2026-05-01 DOI: 10.1097/ICB.0000000000001742
Julia L Xia, Jennifer M Lai, Alan G Palestine, Amit K Reddy
{"title":"EPSTEIN-BARR VIRUS-ASSOCIATED FROSTED BRANCH ANGIITIS.","authors":"Julia L Xia, Jennifer M Lai, Alan G Palestine, Amit K Reddy","doi":"10.1097/ICB.0000000000001742","DOIUrl":"10.1097/ICB.0000000000001742","url":null,"abstract":"<p><strong>Purpose: </strong>To describe two cases of frosted branch angiitis in the setting of Epstein-Barr virus infection.</p><p><strong>Methods: </strong>Retrospective case series of two patients at the University of Colorado Sue Anschutz-Rodgers Eye Center.</p><p><strong>Results: </strong>Case 1 is a 17-year-old female patient who presented with bilateral floaters and blurry vision 2 weeks after a diagnosis of mononucleosis. Visual acuity was 20/20 in both eyes and examination was significant for vitreous cell and frosted branch angiitis appearance to the retinal vasculature in both eyes. Treatment with oral prednisone and valacyclovir was initiated with improvement in vitritis and vascular sheathing. One month after all treatment was discontinued, there was a recurrence of vitritis that was treated with bilateral sub-Tenon triamcinolone acetonide injections. Final visual acuity was 20/20 in both eyes with resolved vitritis. Case 2 is a 20-year-old male patient who presented with headache and acute bilateral vision loss. He was found to have a meningoencephalitis with cerebrospinal fluid positive for Epstein-Barr virus that was treated with IV methylprednisolone and acyclovir. Visual acuity was count fingers in both eyes. Fundus examination revealed diffuse bilateral frosted branch angiitis which the subsequent development of bilateral bacillary detachments and neuroretinitis that required treatment with oral prednisone, oral acyclovir, and bilateral intravitreal dexamethasone implants, which resolved all ocular inflammation. Final visual acuity was 20/30 in the right eye and 20/25 in the left eye.</p><p><strong>Conclusion: </strong>Bilateral frosted branch angiitis may present after Epstein-Barr virus infection and responds well to corticosteroids and antiviral therapy.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"316-322"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143517294","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 CURIOUS CASE OF ENDOGENOUS RAMULARIA ENDOPHTHALMITIS PRESENTING AS ACUTE ANGLE CLOSURE. 一个奇怪的内源性雷姆拉菌性眼内炎的病例,表现为急性闭角。
Retinal Cases and Brief Reports Pub Date : 2026-05-01 DOI: 10.1097/ICB.0000000000001734
Jeremy P Williamson, Richard Y Sarafian, David Pham, Joseph J Park
{"title":"A CURIOUS CASE OF ENDOGENOUS RAMULARIA ENDOPHTHALMITIS PRESENTING AS ACUTE ANGLE CLOSURE.","authors":"Jeremy P Williamson, Richard Y Sarafian, David Pham, Joseph J Park","doi":"10.1097/ICB.0000000000001734","DOIUrl":"10.1097/ICB.0000000000001734","url":null,"abstract":"<p><strong>Purpose: </strong>To report on an interesting case of fungal endogenous endophthalmitis in a patient who was referred in for acute angle closure. A unique presentation with a novel pathogen, Ramularia, identified on vitreous sampling.</p><p><strong>Methods: </strong>Case report.</p><p><strong>Results: </strong>This report describes a patient referred for presumed angle closure with a painful red left eye, an intraocular pressure of 39 mmHg, and perception to light vision. Ramularia species DNA-a novel fungus-was identified on polymerase chain reaction from sterile vitreous sampling during subsequent vitrectomy, performed because of worsening vision. Following vitrectomy, the patient improved with topical voriconazole and oral posaconazole, which was second-line therapy after oral voriconazole caused hepatoxicity. The patient had a good visual outcome with a final visual acuity of 20/50, 18 months after presentation.</p><p><strong>Conclusion: </strong>This case highlights the unique presentation, treatment, and good outcome of a patient with endogenous endophthalmitis from a novel fungus, Ramularia .</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"299-301"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143469982","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
PATCHY ATROPHIC PERIVASCULAR LESIONS IN VITREORETINAL LYMPHOMAS: A CASES SERIES. 玻璃体视网膜淋巴瘤的斑片状萎缩性血管周围病变:1例系列。
Retinal Cases and Brief Reports Pub Date : 2026-05-01 DOI: 10.1097/ICB.0000000000001761
Maxime Desira, Thibault Ruiz, Magali Sampo, Thierry David, Pierre Gascon
{"title":"PATCHY ATROPHIC PERIVASCULAR LESIONS IN VITREORETINAL LYMPHOMAS: A CASES SERIES.","authors":"Maxime Desira, Thibault Ruiz, Magali Sampo, Thierry David, Pierre Gascon","doi":"10.1097/ICB.0000000000001761","DOIUrl":"10.1097/ICB.0000000000001761","url":null,"abstract":"<p><strong>Purpose: </strong>Vitreoretinal lymphoma (VRL) is a rare but aggressive intraocular malignancy, often presenting diagnostic challenges because of its masquerade syndrome characteristics. This study reports on two atypical cases of VRL, highlighting the presence of patchy atrophic perivascular retinal lesions, a feature not commonly emphasized in the literature.</p><p><strong>Methods: </strong>Cases series.</p><p><strong>Results: </strong>The first case involves an 83-year-old woman with primary VRL in her right eye, where progressive atrophic retinal lesions were noted despite systemic chemotherapy. The second case describes a 77-year-old woman with secondary VRL, previously in remission from cerebral lymphoma, who also developed perivascular atrophic lesions in her right eye. These lesions were observed to increase in both number and size over time, even in the absence of active vitreoretinal infiltration or systemic disease relapse.</p><p><strong>Conclusion: </strong>These cases suggest that the patchy atrophic perivascular lesions may be indicative of VRL. The atrophic progression, despite local disease control, underscores the importance of recognizing such patterns as part of the broader spectrum of VRL manifestations. It contributes to the ongoing discussion of minimal residual disease in VRL management.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"369-374"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143813060","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
DELAYED ONSET OF SPONTANEOUS LARGE FULL THICKNESS MACULAR HOLE CLOSURE. 自发性大全层黄斑孔闭合延迟发生。
Retinal Cases and Brief Reports Pub Date : 2026-05-01 DOI: 10.1097/ICB.0000000000001750
Muntadher Al Karam, Rike Michels, Stephan Michels
{"title":"DELAYED ONSET OF SPONTANEOUS LARGE FULL THICKNESS MACULAR HOLE CLOSURE.","authors":"Muntadher Al Karam, Rike Michels, Stephan Michels","doi":"10.1097/ICB.0000000000001750","DOIUrl":"10.1097/ICB.0000000000001750","url":null,"abstract":"<p><strong>Purpose: </strong>Reporting this rare case of spontaneous delayed-onset full-thickness macular hole closure after unsuccessful initial surgical treatment encourages to have new perspectives on the mechanism behind this retinal process.</p><p><strong>Methods: </strong>Uneventful 27-gauge vitrectomy was performed in a 71-year-old female patient for large (460 μm) macular hole. The surgery was combined with peeling of the internal limiting membrane, SF6 tamponade, and head down positioning for 3 days. No closure of the MH was detected within 4 weeks after surgery and visual acuity remained unchanged. The patient refused a revitrectomy.</p><p><strong>Results: </strong>More than 4 years after surgery, a progressive closure of the macular hole was detected clinically and on optical coherence tomography with recovery of vision to 0.4 logarithm of the minimum angle of resolution (20/50).</p><p><strong>Conclusion: </strong>This rare case shows that full mechanisms of macular hole closure yet remain unclear and need to be studied further.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"345-350"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143774876","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
PRESUMED MITOMYCIN C-INDUCED RETINAL TOXICITY AFTER COMBINED CATARACT AND XEN GEL STENT SURGERY. 推测丝裂霉素c在白内障和Xen凝胶支架联合手术后引起视网膜毒性。
Retinal Cases and Brief Reports Pub Date : 2026-05-01 DOI: 10.1097/ICB.0000000000001729
Jared J Tuttle, Shannon D Scarboro, John C Fitzpatrick, Clio A Harper
{"title":"PRESUMED MITOMYCIN C-INDUCED RETINAL TOXICITY AFTER COMBINED CATARACT AND XEN GEL STENT SURGERY.","authors":"Jared J Tuttle, Shannon D Scarboro, John C Fitzpatrick, Clio A Harper","doi":"10.1097/ICB.0000000000001729","DOIUrl":"10.1097/ICB.0000000000001729","url":null,"abstract":"<p><strong>Purpose: </strong>To describe a case of presumed mitomycin C-induced retinal toxicity after combined cataract and XEN gel stent surgery.</p><p><strong>Methods: </strong>Observational case report.</p><p><strong>Results: </strong>A 66-year-old man presents with progressive vision loss (20/25 baseline to light-perception) after combined cataract and XEN gel stent surgery in the left eye. The patient received 0.15 mL of 0.4 mg/mL of mitomycin C via intratenon injection during the surgery. The patient reported severe eye pain after surgery, which gradually resolved over time. Upon examination at postoperative day 41, vessel attenuation, sclerotic vessels, and optic nerve pallor are observed without any retinal hemorrhaging. At postoperative day 55, visual acuity remains at light-perception with a flatline electroretinogram. Outcomes remain consistent at postoperative day 125.</p><p><strong>Conclusion: </strong>Care should be taken to avoid intraocular mitomycin C, especially when administered via intratenon injection during combined cataract and XEN gel stent surgery.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"329-331"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143400515","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
IN VIVO SURGICAL APPROACH OF SUBRETINAL CYSTICERCOSIS: A CASE REPORT. 视网膜下囊虫病的体内手术治疗1例。
Retinal Cases and Brief Reports Pub Date : 2026-05-01 DOI: 10.1097/ICB.0000000000001748
Melissa M Medina Melo, Laura Quintero Arciniegas, Santiago Morales Orozco
{"title":"IN VIVO SURGICAL APPROACH OF SUBRETINAL CYSTICERCOSIS: A CASE REPORT.","authors":"Melissa M Medina Melo, Laura Quintero Arciniegas, Santiago Morales Orozco","doi":"10.1097/ICB.0000000000001748","DOIUrl":"10.1097/ICB.0000000000001748","url":null,"abstract":"<p><strong>Purpose: </strong>To report the clinical and imaging findings of a patient with right eye progressive vision loss, in whom ocular neurocysticercosis was diagnosed. The patient underwent vitreoretinal surgery with previous antihelmintic treatment, resulting in a successful extraction of the subretinal cyst.</p><p><strong>Methods: </strong>A patient with subretinal neurocysticercosis underwent a combination of ophthalmic examination, fundus photography, ocular ultrasonography, brain MRI, and surgery.</p><p><strong>Results: </strong>A 57-year-old woman from La Guajira, Colombia, presented with a 2-year history of unilateral subretinal neurocysticercosis and an overlying exudative inferior retinal detachment with multiple areas of retinal pigment epithelium atrophy. Different methods of surgery were contemplated to achieve a favorable outcome, until deciding on a microincision vitrectomy surgery.</p><p><strong>Conclusion: </strong>An \"in vivo\" minimally invasive pars plana approach should be considered, given it has proven to be successful in removing intraocular cysts with no postoperative inflammatory response, preserving anatomic and functional integrity.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"447-451"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607270","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
CARTRIDGE-ASSISTED SCLERAL FIXATION OF A FOUR-LOOPED HAPTICS INTRAOCULAR LENS USING LOOPED SUTURES. 环形缝合线辅助巩膜固定4环触觉人工晶状体。
Retinal Cases and Brief Reports Pub Date : 2026-05-01 DOI: 10.1097/ICB.0000000000001847
Chengye Tan, Qingru Wang, Yanqiu Liu, Tianhua Xie, Miao Zhuang, Yong Yao
{"title":"CARTRIDGE-ASSISTED SCLERAL FIXATION OF A FOUR-LOOPED HAPTICS INTRAOCULAR LENS USING LOOPED SUTURES.","authors":"Chengye Tan, Qingru Wang, Yanqiu Liu, Tianhua Xie, Miao Zhuang, Yong Yao","doi":"10.1097/ICB.0000000000001847","DOIUrl":"10.1097/ICB.0000000000001847","url":null,"abstract":"<p><strong>Purpose: </strong>To describe a modified scleral fixation technique for a four-haptic foldable intraocular lens using 10-0 looped polypropylene sutures, aimed at reducing suture exposure risks and enhancing centration stability in eyes with inadequate capsular support.</p><p><strong>Methods: </strong>This retrospective interventional study included nine eyes of nine patients, who underwent modified scleral fixation of a four-haptic foldable intraocular lens between January 2023 and January 2024.</p><p><strong>Results: </strong>Over a mean follow-up period of 10.89 months, postoperative logarithm of the minimum angle of resolution best-corrected visual acuity improved significantly (20/43 vs. 20/130 preoperatively). The mean intraocular lens tilt was 0.27 ± 0.09 µ m, with acceptable endothelial cell loss (9.96%). No intraoperative or postoperative complications were observed.</p><p><strong>Conclusion: </strong>This technique performed through a small incision, achieves reliable intraocular lens positioning and visual improvement via four-point fixation while effectively eliminating suture-related complications.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"466-470"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145688727","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
CANCER-ASSOCIATED RETINOPATHY AFTER CHIMERIC ANTIGEN RECEPTOR T-CELL THERAPY. 嵌合抗原受体t细胞治疗后的癌症相关视网膜病变。
Retinal Cases and Brief Reports Pub Date : 2026-05-01 DOI: 10.1097/ICB.0000000000001737
Michael Mann, Da Meng, Renee Liu, Henry W Zhou, Yandong Bian, Joseph J Raevis, Lucia Sobrin, Michael Leukam
{"title":"CANCER-ASSOCIATED RETINOPATHY AFTER CHIMERIC ANTIGEN RECEPTOR T-CELL THERAPY.","authors":"Michael Mann, Da Meng, Renee Liu, Henry W Zhou, Yandong Bian, Joseph J Raevis, Lucia Sobrin, Michael Leukam","doi":"10.1097/ICB.0000000000001737","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001737","url":null,"abstract":"<p><strong>Purpose: </strong>To describe a case of cancer-associated retinopathy (CAR) after chimeric antigen receptor T (CART)-cell therapy.</p><p><strong>Methods: </strong>Retrospective case report.</p><p><strong>Results: </strong>A 71-year-old man with follicular lymphoma refractory to multiple chemotherapies underwent CART-cell therapy. Two weeks after CART initiation, he presented with rapid-onset decreased peripheral vision in both eyes. Fluorescein angiography showed attenuation of peripheral vessel filling, and optical coherence tomography showed loss of ellipsoid zone with foveal sparing. Electroretinography revealed nondetectable rod responses and severely prolonged and diminished cone responses. Antiretinal antibody testing showed positive antienolase and antiheat shock protein 60 antibodies on Western blot with strong staining of the outer segments on immunohistochemistry. The patient was diagnosed with CAR and is currently on monthly IV immunoglobulin (IVIg) with stable central visual acuity.</p><p><strong>Conclusion: </strong>This patient developed CAR immediately after receiving CART-cell therapy, which depletes B cells. This suggests that CAR pathophysiology may not be purely autoantibody mediated as typically believed.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":"20 3","pages":"355-359"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147823413","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
SYSTEMIC LYMPHOMA MASQUERADING AS BIRDSHOT CHORIORETINOPATHY. 伪装成鸟射型脉络膜视网膜病变的全身性淋巴瘤。
Retinal Cases and Brief Reports Pub Date : 2026-05-01 DOI: 10.1097/ICB.0000000000001743
Elizabeth Y Wei, Marko M Popovic, Panos G Christakis
{"title":"SYSTEMIC LYMPHOMA MASQUERADING AS BIRDSHOT CHORIORETINOPATHY.","authors":"Elizabeth Y Wei, Marko M Popovic, Panos G Christakis","doi":"10.1097/ICB.0000000000001743","DOIUrl":"10.1097/ICB.0000000000001743","url":null,"abstract":"<p><strong>Purpose: </strong>To report a rare case of systemic lymphoma causing a birdshot-like chorioretinopathy in a histocompatibility leukocyte antigen-A29-negative patient.</p><p><strong>Methods: </strong>A 58-year-old man presented with a 1-year history of blurry vision and intermittent floaters. He had evidence of bilateral choroidal birdshot-like lesions that appeared atrophic without any vitritis. He had a history of low-grade B-cell lymphoma and chronic myeloid leukemia, both of which were diagnosed >10 years before presentation and treated with chemotherapy.</p><p><strong>Results: </strong>The differential diagnosis of these birdshot-like lesions included autoimmune, neoplastic, and infectious etiologies. Work-up revealed a negative histocompatibility leukocyte antigen-A29 and negative results for syphilis and tuberculosis. Magnetic resonance imaging revealed enhancement of the trigeminal and oculomotor nerve cisternal segments but no overt evidence of malignancy. Full-field electroretinogram and multifocal electroretinogram tests were within normal limits. Serial follow-up clinical examinations, retinal imaging, full-field electroretinogram, and multifocal electroretinogram demonstrated no disease progression. Two years after his initial consultation, he developed a paraspinal mass that was biopsied and found to be diffuse large B-cell lymphoma and was treated with chemotherapy.</p><p><strong>Conclusion: </strong>Clinicians should consider birdshot-like chorioretinopathy masquerade syndromes in patients who present with birdshot-like choroidal lesions with negative histocompatibility leukocyte antigen-A29, a history of lymphoma, or atypical characteristics. In this case, the authors suspect the patient's past low-grade B-cell lymphoma, and chemotherapy resulted in the chronic choroidal findings. It is unclear whether choroidal involvement predisposes a patient to high-grade transformation to diffuse large B-cell lymphoma. His ocular findings remained inactive throughout the treatment of his diffuse large B-cell lymphoma.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"360-363"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143528005","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 DYSTROPHY AS AN UNUSUAL MANIFESTATION OF TRICHOTHIODYSTROPHY. 视网膜营养不良是毛硫营养不良的一种不寻常的表现。
Retinal Cases and Brief Reports Pub Date : 2026-05-01 DOI: 10.1097/ICB.0000000000001756
Fernanda Galante Dourado, Daniel Queiroz Omote, Paula Dandara Correia de Pinho, Sergio Luis Gianotti Pimentel
{"title":"RETINAL DYSTROPHY AS AN UNUSUAL MANIFESTATION OF TRICHOTHIODYSTROPHY.","authors":"Fernanda Galante Dourado, Daniel Queiroz Omote, Paula Dandara Correia de Pinho, Sergio Luis Gianotti Pimentel","doi":"10.1097/ICB.0000000000001756","DOIUrl":"10.1097/ICB.0000000000001756","url":null,"abstract":"<p><strong>Purpose: </strong>Describe a case of retinal dystrophy as an ophthalmologic manifestation of trichothiodystrophy in a young patient.</p><p><strong>Methods: </strong>Multimodal retinal imaging evaluation was performed, with color fundus photograph, fundus autofluorescence, fluorescein angiography, optical coherence tomography, and electroretinogram. Genetic testing confirmed the systemic diagnosis.</p><p><strong>Results: </strong>Genetic testing confirmed the diagnosis of trichothiodystrophy, and retinal dystrophy was considered a rare manifestation of the systemic disease.</p><p><strong>Conclusion: </strong>Ophthalmologic manifestations in trichothiodystrophy are variable, with cataracts and refractive errors being the most reported, although our case had a retinal dystrophy. Retinal degeneration is not typically considered a hallmark of trichothiodystrophy but should be considered as a rare ophthalmologic manifestation in this syndromic disease.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"410-413"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143784509","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
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