Retinal Cases and Brief Reports最新文献

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Presentation of post intravitreal anti-Vascular Endothelial Growth Factor (ranibizumab) endophthalmitis as frosted branch angiitis. 玻璃体内抗血管内皮生长因子(雷尼单抗)后眼内炎表现为霜状支血管炎。
Retinal Cases and Brief Reports Pub Date : 2025-10-01 DOI: 10.1097/ICB.0000000000001820
Suganeswari Ganesan, Henna V Valakkadavil, Charanya C
{"title":"Presentation of post intravitreal anti-Vascular Endothelial Growth Factor (ranibizumab) endophthalmitis as frosted branch angiitis.","authors":"Suganeswari Ganesan, Henna V Valakkadavil, Charanya C","doi":"10.1097/ICB.0000000000001820","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001820","url":null,"abstract":"<p><strong>Purpose: </strong>To report a case of a 43-year-old female with post intravitreal injection endophthalmitis who presented with segmental perivascular sheathing simulating frosted branch angiitis.</p><p><strong>Methods: </strong>We promptly suspected and treated the atypical presentation of post anti-VEGF bacterial endophthalmitis with pars plana vitrectomy and intraocular and oral antibiotics.</p><p><strong>Results: </strong>Patient showed dramatic response to the treatment and made full visual recovery with resolution of clinical signs.</p><p><strong>Conclusion: </strong>Frosted branch angiitis (FBA), though typically associated with autoimmune conditions, malignancies, or certain viral infections, may also present as an early manifestation of bacterial endophthalmitis. Prompt initiation of treatment can significantly improve visual outcomes.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145226407","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
Spontaneous resolution of serous retinal detachment secondary to accidental subretinal triamcinolone acetonide injection following orbital floor injection. 眶底注射后意外注射曲安奈德致视网膜下浆液性视网膜脱离的自发消退。
Retinal Cases and Brief Reports Pub Date : 2025-10-01 DOI: 10.1097/ICB.0000000000001826
Hanan Shaheen, Irina-Elena Cristescu, Kurt Spiteri-Cornish
{"title":"Spontaneous resolution of serous retinal detachment secondary to accidental subretinal triamcinolone acetonide injection following orbital floor injection.","authors":"Hanan Shaheen, Irina-Elena Cristescu, Kurt Spiteri-Cornish","doi":"10.1097/ICB.0000000000001826","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001826","url":null,"abstract":"<p><strong>Purpose: </strong>To report a case of a female patient in her 90s who presented with an inferotemporal serous retinal detachment after accidental subretinal triamcinolone acetonide (TCA) injection following orbital floor injection for cystoid macular oedema.</p><p><strong>Methods: </strong>Observational case report.</p><p><strong>Results: </strong>There was an acute intraocular pressure elevation immediately following the injection that resolved with medical management. TCA has been reported to potentially be toxic to the outer retinal layers. However, the retinal detachment gradually resolved without intervention with resolution of the cystoid macular oedema and improvement in visual acuity.</p><p><strong>Conclusions: </strong>Conservative management may be an option following a careful detailed assessment in selected cases of accidental subretinal TCA injection.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145253743","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
FLANGED INTRASCLERAL INTRAOCULAR LENS FIXATION USING 31G NEEDLES. 巩膜内人工晶状体固定采用31g针。
Retinal Cases and Brief Reports Pub Date : 2025-10-01 DOI: 10.1097/ICB.0000000000001807
Takashi Nagamoto, Toshihide Kurihara, Kazuno Negishi, Norimitsu Ban
{"title":"FLANGED INTRASCLERAL INTRAOCULAR LENS FIXATION USING 31G NEEDLES.","authors":"Takashi Nagamoto, Toshihide Kurihara, Kazuno Negishi, Norimitsu Ban","doi":"10.1097/ICB.0000000000001807","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001807","url":null,"abstract":"<p><strong>Purpose: </strong>To demonstrate the novel use of a 31-gauge needle for flanged intrascleral intraocular lens (IOL) fixation using the double-needle technique.</p><p><strong>Methods: </strong>Flanged intrascleral IOL fixation was performed using the ZELOSTAT 31G (ASTI, Shizuoka, Japan) needle in a 73-year-old male with right IOL subluxation.</p><p><strong>Results: </strong>The IOL was successfully fixated with smooth intraoperative handling, excellent postoperative outcomes, no complications, and minimal refractive error.</p><p><strong>Conclusion: </strong>The 31-gauge needle has a larger inner diameter compared to the conventional 30-gauge thin-wall needle, which may facilitate intrascleral IOL fixation procedures.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145226358","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
Aggressive Surgical Management for Acute Neonatal Endogenous Candida Endophthalmitis with Persistent Fetal Vasculature and Pars Plana Granuloma. 新生儿急性内源性假丝酵母眼内炎伴持续性胎儿血管和扁平部肉芽肿的积极手术治疗。
Retinal Cases and Brief Reports Pub Date : 2025-09-24 DOI: 10.1097/ICB.0000000000001824
Bhagyashree Meshram, Akash Belenje, Subhadra Jalali, Sindhuja Srinivasan
{"title":"Aggressive Surgical Management for Acute Neonatal Endogenous Candida Endophthalmitis with Persistent Fetal Vasculature and Pars Plana Granuloma.","authors":"Bhagyashree Meshram, Akash Belenje, Subhadra Jalali, Sindhuja Srinivasan","doi":"10.1097/ICB.0000000000001824","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001824","url":null,"abstract":"<p><strong>Purpose: </strong>To report aggressive surgical management for bilateral acute neonatal endogenous Candida endophthalmitis in the different presenting spectrums of the disease.</p><p><strong>Methods: </strong>Ultra-widefield fundus photo documentation for both eyes at presentation and after the surgical procedure. Surgical video with stepwise precautions while performing the procedure of pars plana lensectomy for lens abscess, vitrectomy for vitreous exudates, and cryotherapy for fungal granuloma in neonatal endogenous endophthalmitis.</p><p><strong>Results: </strong>A 2-month-old baby with a history of premature birth was referred to our hospital by the treating pediatrician with a clinical suspicion of endogenous endophthalmitis in the right eye. The baby was diagnosed with acute synovitis of the right knee and was on treatment. On examination, the right eye showed a focal lens abscess with pars plana granuloma, with a temporal retinal fold and persistent fetal vasculature stalk arising from the disc. The left eye showed floating posterior vitreous exudates. The right eye underwent pars plana lensectomy and vitrectomy. A cryotherapy was performed for the granuloma, and an intravitreal antifungal was injected. The left eye underwent lens-sparing vitrectomy with intravitreal antifungal. Both eyes' vitreous biopsy samples confirmed Candida by fungal polymerase chain reaction (PCR). The pediatrician continued systemic antifungal. Both eyes showed resolved endogenous endophthalmitis with favorable outcomes at 1-month post-surgery.</p><p><strong>Conclusion: </strong>Early aggressive surgical intervention with lensectomy for lens abscess, complete vitrectomy with base shaving, Cryotherapy for fungal granuloma, and intravitreal and systemic antifungal agents for endogenous endophthalmitis plays a pivotal role in targeting localized fungal lesions to control their progression.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193265","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
Endogenous Aspergillus endophthalmitis complicated by florid retinal neovascularization: double trouble. 内源性曲霉菌性眼内炎并发绚丽的视网膜新生血管:双重困扰。
Retinal Cases and Brief Reports Pub Date : 2025-09-24 DOI: 10.1097/ICB.0000000000001823
Pooja Bansal, Shruti Bhattacharya, Khushboo Chawla, Priyadarshi Gupta, Meenakshi Thakar, Shivani Tyagi, Poonam Loomba
{"title":"Endogenous Aspergillus endophthalmitis complicated by florid retinal neovascularization: double trouble.","authors":"Pooja Bansal, Shruti Bhattacharya, Khushboo Chawla, Priyadarshi Gupta, Meenakshi Thakar, Shivani Tyagi, Poonam Loomba","doi":"10.1097/ICB.0000000000001823","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001823","url":null,"abstract":"<p><strong>Purpose: </strong>To describe the presentation, clinical course, and management of a patient with endogenous Aspergillus endophthalmitis complicated by florid retinal neovascularization.</p><p><strong>Methods: </strong>A 32-year-old immunocompetent female developed a loss of vision in the right eye one week after receiving intravenous dextrose infusions in a local healthcare setting. Ocular examination revealed dense vitreous exudates for which an urgent vitrectomy was performed, with a presumptive diagnosis of endogenous endophthalmitis. Microbiological analysis of vitreous samples revealed Aspergillus flavus.</p><p><strong>Results: </strong>Intravitreal and oral antifungals lead to the resolution of inflammation. However, the patient soon presented with large neovascular fronds involving the disc and posterior pole, rapidly progressing to tractional retinal detachment involving the macula. The intravitreal anti-vascular endothelial growth factor (anti-VEGF) ranibizumab was injected, followed by repeat vitrectomy and membrane dissection with gas tamponade. This resulted in a satisfactory anatomical outcome but poor visual gain due to submacular scarring.</p><p><strong>Conclusions: </strong>Endogenous Aspergillus endophthalmitis warrants early diagnosis and aggressive management to avoid complications such as ocular neovascularization, retinal detachment, and phthisis bulbi. Retinal neovascularization in endogenous endophthalmitis is a rarely observed finding, but if present, it indicates severe ongoing inflammation or underlying retinal ischemia.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193555","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
Peripapillary retinoschisis associated with open angle glaucoma responding to dorzolamide. 乳头周围视网膜裂伴开角型青光眼对多唑胺的反应。
Retinal Cases and Brief Reports Pub Date : 2025-09-24 DOI: 10.1097/ICB.0000000000001822
Omar Moussa, Erin Flynn, Jedrzej Golebka, Stanley Chang
{"title":"Peripapillary retinoschisis associated with open angle glaucoma responding to dorzolamide.","authors":"Omar Moussa, Erin Flynn, Jedrzej Golebka, Stanley Chang","doi":"10.1097/ICB.0000000000001822","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001822","url":null,"abstract":"<p><strong>Purpose: </strong>Presenting a case of peripapillary retinoschisis in a patient with glaucomatous optic neuropathy that resolved after changing therapy from topical bimatoprost to timolol/dorzolamide.</p><p><strong>Methods: </strong>A 70-year-old female who presented for a second opinion for peripapillary retinoschisis in the left eye.</p><p><strong>Results: </strong>The patient's visual acuity was 20/25 and 20/30 in the right and left eyes, respectively. Dilated fundoscopy revealed posterior vitreous detachment (PVD) of the left eye, temporal cupping with a superotemporal notch of the left optic nerve, and bilateral macular drusen and pigmentary changes of the retinal pigment epithelium (RPE). Optical coherence tomography of the macula of the left eye showed a PVD, drusen, and peripapillary retinoschisis extending to and involving the fovea. Topical prostaglandin analogue eye drop was discontinued and replaced by dorzolamide/timolol. The peripapillary retinoschisis resolved after medication change over the following 48 months and has not recurred.</p><p><strong>Conclusion: </strong>We present a case of peripapillary retinoschisis in a phakic patient that developed during treatment with a topical prostaglandin analogue. The schisis resolved after switching the prostaglandin analogue to a topical carbonic anhydrase inhibitor. We suggest that the prostaglandin may have had a role in initiating peripapillary retinoschisis associated with glaucomatous optic neuropathy and that carbonic anhydrase inhibitors are a potential treatment for this condition.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193574","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
Hypertensive Proliferative Choriorretinopathy. 高血压增生性脉络膜视网膜病变。
Retinal Cases and Brief Reports Pub Date : 2025-09-24 DOI: 10.1097/ICB.0000000000001819
Guilherme Portas-Almeida, Catarina Oliveira Rodrigues, Rita Guerra Pinto
{"title":"Hypertensive Proliferative Choriorretinopathy.","authors":"Guilherme Portas-Almeida, Catarina Oliveira Rodrigues, Rita Guerra Pinto","doi":"10.1097/ICB.0000000000001819","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001819","url":null,"abstract":"<p><strong>Purpose: </strong>To report a case of hypertensive chorioretinopathy complicated by anterior segment neovascularization, refractory to PRP.</p><p><strong>Methods: </strong>Case Report and Literature Review.</p><p><strong>Results: </strong>A 57-year-old male with poorly controlled systemic hypertension (exceeding 200/100 mmHg) experienced progressive visual acuity loss in the left eye over two years, with worsening in the last six months. Slit-Lamp examination revealed neovascularization of the angle in the left eye. Fundoscopy disclosed pale choroidal vessels temporal to the macula of both eyes, as well as additional retinochoroidal findings, such as telangiectatic vessels and a rounded shaped pale subretinal region on the right eye and combined vascular occlusion in the left inferior hemi-retina. Fluorescein and indocyanine angiography showed delayed choroidal perfusion and marked retinal ischemia, consistent with severe Hypertensive Chorioretinopathy. Initial treatment with monthly intravitreal anti-VEGF injections and PRP led to remission of anterior segment neovascularization, but recurrence occurred after two months, requiring additional anti-VEGF therapy.</p><p><strong>Conclusion: </strong>The insufficient response to PRP in this case suggests that choroidal ischaemia may not be as amenable to laser treatment as ischaemic retina. Highlighting the importance of regular follow-up, this report underscores the need for comprehensive hypertensive control to prevent vision-threatening outcomes.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193501","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 Pediatric Case of Leukemia Retinopathy with Peripheral Retinal Changes Detected by Ultra-Widefield Optical Coherence Tomography. 用超宽视场光学相干断层扫描检测外周视网膜病变的儿童白血病视网膜病变1例。
Retinal Cases and Brief Reports Pub Date : 2025-09-23 DOI: 10.1097/ICB.0000000000001814
Yuto Uchida, Kazuma Saito, Hideo Akiyama
{"title":"A Pediatric Case of Leukemia Retinopathy with Peripheral Retinal Changes Detected by Ultra-Widefield Optical Coherence Tomography.","authors":"Yuto Uchida, Kazuma Saito, Hideo Akiyama","doi":"10.1097/ICB.0000000000001814","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001814","url":null,"abstract":"<p><strong>Purpose: </strong>We report a case of chronic myeloid leukemia (CML) diagnosed with ocular symptoms, in which dilated and tortuous retinal vessels were observed and monitored using ultra-widefield optical coherence tomography angiography (OCTA).</p><p><strong>Methods: </strong>Case report of a 13-year-old girl who presented with bilateral photopsia and misty vision in the right eye.</p><p><strong>Results: </strong>Fundus examination revealed dilated and tortuous retinal arteriovenous veins and yellowish-white exudative lesions along the retinal vessels in both eyes. A similar yellowish-white exudative lesion was observed in the macula of the right eye. A blood test showed a high white blood cell count of 588,400/µL. CML was diagnosed by hematological examination. After one month of treatment for CML, the patient was in complete hematologic remission, and the yellowish-white exudative lesions and dilatation and tortuosity of the retinal vessels improved. Ultra-widefield OCTA revealed dilated and tortuous retinal capillaries, as well as areas of non-perfusion at the initial visit; these findings improved after treatment.</p><p><strong>Conclusion: </strong>Ultra-widefield OCTA can be used to non-invasively observe extensive retinal vascular and capillary changes in leukemic retinopathy over time.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145132415","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
Choroidal neovascularization in AZOOR. AZOOR患者脉络膜新生血管。
Retinal Cases and Brief Reports Pub Date : 2025-09-23 DOI: 10.1097/ICB.0000000000001815
Nour Boungab, Adélaïde Toutee, Youssef Gourinda, Michel Paques, Sarah Mrejen
{"title":"Choroidal neovascularization in AZOOR.","authors":"Nour Boungab, Adélaïde Toutee, Youssef Gourinda, Michel Paques, Sarah Mrejen","doi":"10.1097/ICB.0000000000001815","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001815","url":null,"abstract":"<p><strong>Purpose: </strong>To report mul4modal imaging features in a case of an acute zonal occult outer re4nopathy (AZOOR) complicated with choroidal neovascularization during a follow-up of 18 months.</p><p><strong>Methods: </strong>A 53-year-old woman was referred for bilateral decreased vision and photopsia.Fundus examina4on showed a circular posterior lesion with a far-peripheral lesion in the right eye and a single peripapillary lesion in the leb eye. The lesions were depigmented in both eyes, bordered by an interrupted yellow-orange line in a beaded appearance. The right eye featured macular atrophy with pigmentary migra4on.</p><p><strong>Results: </strong>Clinical examina4on, autofluorescence and angiography confirmed the diagnosis of AZOOR. OCT-B scan and angiography OCT confirmed the presence of an ac4ve choroidal neovascularization in the right eye. Intravitreal an4-VEGF was injected in the right eye with a favorable response.</p><p><strong>Conclusion: </strong>AZOOR is a rare re4nal en4ty with a poorly understood pathogenic mechanism. Choroidal neovascularization is an extremely rare complica4on in AZOOR. We describe mul4modal imaging features of AZOOR with choroidal neovascularization treated by an4-VEGF.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145138920","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 10-year-old Girl with an 8-Month History of Progressive Photophobia and Hemeralopia. 一名10岁女童,有8个月进行性畏光及近视史。
Retinal Cases and Brief Reports Pub Date : 2025-09-23 DOI: 10.1097/ICB.0000000000001818
Maximilian D Kong, Jin Kyun Oh, Johnathan A Bailey, Abdhel Exinor, Chanakarn Piamjitchol, Noah Heaps, Stephen H Tsang
{"title":"A 10-year-old Girl with an 8-Month History of Progressive Photophobia and Hemeralopia.","authors":"Maximilian D Kong, Jin Kyun Oh, Johnathan A Bailey, Abdhel Exinor, Chanakarn Piamjitchol, Noah Heaps, Stephen H Tsang","doi":"10.1097/ICB.0000000000001818","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001818","url":null,"abstract":"<p><strong>Purpose: </strong>To report a case of nonparaneoplastic autoimmune retinopathy in a 10-year-old female with chronic granulomatous disease (CGD) due to compound heterozygous mutations in NCF1.</p><p><strong>Methods: </strong>The patient was evaluated at Columbia University Irving Medical Center using a comprehensive multimodal imaging protocol that included color fundus photography, short-wave autofluorescence (SW-AF), and spectral-domain optical coherence tomography (SD-OCT). Functional assessments were conducted using Goldmann visual fields and full-field electroretinography (ERG) were completed on-site and followed the ISCEV standard protocols to ensure consistent and reproducible measurements of photoreceptor activity.</p><p><strong>Results: </strong>A 10-year-old female presented with decreased visual acuity, light sensitivity, and decreased color vision over the past 8 months with no improvement upon refraction. Upon detection of anti-retinal antibodies, treatment was initiated with stabilization and improvement of visual acuity and ERG responses with rituximab treatment. Whole genome sequencing revealed two mutations in NCF1 causing chronic granulomatous disease.</p><p><strong>Conclusions: </strong>We present a case of autoimmune retinopathy in a CGD patient with compound heterozygous mutations in the NCF1 gene. This novel association may suggest that autoimmunity may be involved the development of the chorioretinal lesions seen in CGD patients. It also supports the use of rituximab in the management of autoimmune retinopathy.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145132368","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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