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}
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}
{"title":"The serial changes of near-infrared autofluorescence in solar retinopathy.","authors":"Ya-Chi Huang, Jian-Sheng Wu","doi":"10.1097/ICB.0000000000001816","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001816","url":null,"abstract":"<p><strong>Purpose: </strong>To elucidate the serial changes of near-infrared autofluorescence (NIA) imaging in an adolescent male with unilateral solar retinopathy.</p><p><strong>Methods: </strong>This is a retrospective case report.</p><p><strong>Results: </strong>The patient received a course of steroids, resulting in gradual improvement in visual acuity from 20/100 to 20/50 over 12 months. NIA findings showed that the hyperautofluorescent ring dissipated, leaving a hypoautofluorescent lesion. While OCT displayed persistent photoreceptor disruption, NIA revealed subtle changes over the follow-up period. The correlation between NIA findings and structural alterations in the photoreceptors and retinal pigment epithelium (RPE) was consistent across all imaging modalities.</p><p><strong>Conclusion: </strong>NIA imaging serves as a non-invasive tool for monitoring disease progression and evaluating the status of photoreceptors and RPE in solar retinopathy. The changes observed in NIA suggest that early intervention may positively impact the visual prognosis and disease progression. NIA may be a valuable adjunctive tool in the comprehensive evaluation of solar 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":"145132385","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}
Estel la Rojas-Pineda, Nuria Cintas, Anna Bruix, Maria Jose Capella
{"title":"Retinal Vasculitis Associated with Tislelizumab in a Patient with Esophageal Squamous Cell Carcinoma.","authors":"Estel la Rojas-Pineda, Nuria Cintas, Anna Bruix, Maria Jose Capella","doi":"10.1097/ICB.0000000000001817","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001817","url":null,"abstract":"<p><strong>Purpose: </strong>To describe a case of retinal vasculitis associated with tislelizumab, an anti-PD-1 monoclonal antibody, in a patient with esophageal squamous cell carcinoma (ESCC).</p><p><strong>Methods: </strong>Case report.</p><p><strong>Results: </strong>A 60-year-old man undergoing treatment with tislelizumab for ESCC was referred for ophthalmologic evaluation. The patient was asymptomatic, but fundoscopic examination revealed peripheral intraretinal hemorrhages in the right eye. Fluorescein angiography revealed bilateral retinal vasculitis that was successfully controlled with systemic corticosteroids without discontinuation of tislelizumab. Four months after prednisone cessation, the patient relapsed with bilateral vision loss, and optical coherence tomography demonstrated subfoveal fluid in both eyes. Oral prednisone was reintroduced, leading to resolution of the subfoveal fluid, though visual acuity did not fully recover.</p><p><strong>Conclusions: </strong>To our knowledge, retinal vasculitis associated with tislelizumab has not been previously reported. This case highlights the need for close ophthalmologic monitoring in patients receiving immune checkpoint inhibitors, as ocular immune-related adverse events can develop or recur at any point during treatment and even be asymptomatic.</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":"145132397","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}
Annamaria Nunziata, Sebastiano Del Fabbro, Alessio Antropoli, Lorenzo Bianco, Alessandro Arrigo, Francesco Bandello, Ahmad M Mansour, Maurizio Battaglia Parodi
{"title":"12-Year follow-up of a Benign Yellow Dot Maculopathy case 12-Year Follow-Up of BYDM.","authors":"Annamaria Nunziata, Sebastiano Del Fabbro, Alessio Antropoli, Lorenzo Bianco, Alessandro Arrigo, Francesco Bandello, Ahmad M Mansour, Maurizio Battaglia Parodi","doi":"10.1097/ICB.0000000000001810","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001810","url":null,"abstract":"<p><strong>Purpose: </strong>Benign Yellow Dot Maculopathy (BYDM) is a rare macular phenotype first described in 2017, characterized by yellow macular dots with preserved visual function. Although is considered a non-progressive condition, long-term follow-up data are limited. This case report presents a 12-year follow-up of a patient with BYDM, offering insights into its long-term stability over time.</p><p><strong>Methods: </strong>The patient underwent comprehensive multimodal imaging, including optical coherence tomography (OCT), fundus autofluorescence (FAF), electro-oculography (EOG), and microperimetry. Genetic analysis via next-generation sequencing (NGS) was also performed to explore potential genetic associations.</p><p><strong>Results: </strong>At baseline, FAF revealed characteristic hyperautofluorescent yellow dots in the macular and mid-peripheral retina, while OCT showed no structural abnormalities. EOG demonstrated subnormal responses, suggesting retinal pigment epithelium (RPE) dysfunction, and microperimetry indicated a global reduction in retinal sensitivity. Genetic testing identified two heterozygous variants of uncertain significance (ALMS1 and GPR179), but no pathogenic mutations associated with macular dystrophies. Over the 12-year follow-up, no progression of structural or functional abnormalities was observed, supporting the non-progressive nature of BYDM.</p><p><strong>Conclusions: </strong>This case represents one of the longest follow-ups reported for BYDM, confirming its long-term stability. Despite subtle functional alterations, the absence of disease progression supports its benign nature. Further research is needed to refine the clinical spectrum of BYDM and distinguish it from other macular disorders.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145132389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Vitreous metastasis of laryngeal carcinoma presenting as a white mass: A case report.","authors":"Takako Ohnishi, Mariko Horinaka, Akira Ohno, Tadayoshi Koda, Kenta Uto, Harumasa Yokota, Taiji Nagaoka, Satoru Yamagami","doi":"10.1097/ICB.0000000000001805","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001805","url":null,"abstract":"<p><strong>Purpose: </strong>We report a case of a vitreous opacity identified as a white inferiorly located vitreous mass. Vitreous surgical biopsy revealed that it was vitreous metastasis of laryngeal carcinoma.</p><p><strong>Methods: </strong>A 56-year-old man on immune-chemotherapy for laryngeal carcinoma presented to our hospital with photopsia in his left eye (OS) for two weeks.</p><p><strong>Results: </strong>Slit-lamp examination revealed 0.5+ cells in the anterior chamber and 0.5+ cells in the vitreous humor OS. The optic nerve papilla was normal in both eyes, although slight macular edema was present OS. A white mass formed by a vitreous opacity precipitated at the inferior of the left fundus. Due to ongoing systemic treatment, the patient was unable to make frequent visits to ophthalmology, and the second visit occurred one month after the initial examination. Fundus angiography revealed retinal vasculitis OS. Two months after the initial visit, tractional retinal detachment with retinal hemorrhage occurred. Therefore, a 25-gauge lens vitrectomy was performed immediately. Histopathological examination of the vitreous obtained intraoperatively revealed atypical squamous cells identified as a vitreous metastasis of laryngeal carcinoma.</p><p><strong>Conclusions: </strong>Vitreous metastasis of laryngeal carcinoma had not been previously reported. On the initial examination, there were few findings other than a white friable mass presenting as a vitreous opacity precipitating at the inferior of the fundus. Vitreous opacity in patients with carcinoma should be considered a potential indicator of metastatic tumors.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145139298","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}
Maxwell J Gelkopf, Thomas G Sheidow, Verena R Juncal
{"title":"A case of choroidal neovascular membrane in Enhanced S-Cone Syndrome treated with Aflibercept.","authors":"Maxwell J Gelkopf, Thomas G Sheidow, Verena R Juncal","doi":"10.1097/ICB.0000000000001812","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001812","url":null,"abstract":"<p><strong>Purpose: </strong>Enhanced S-Cone Syndrome (ESCS) is a rare genetic disorder caused by a mutation in the NR2E3 genet that presents with night blindness, cystoid macular edema, subretinal fibrosis characteristic electroretinogram changes, and in a subset of patients choroidal neovascular membranes.</p><p><strong>Methods: </strong>A retrospective chart review was conducted of a single case presentation.</p><p><strong>Results: </strong>An 18-year-old male presented with a 6 day decline in left eye vision. Ancillary testing revealed foveomacular schisis in the right eye and an active CNV in the left eye. Further testing confirmed a diagnosis of ESCS. Treatment with intravitreal aflibercept injections resulted in regression of CNV and improvement in visual acuity.</p><p><strong>Conclusion: </strong>Intravitreal aflibercept demonstrates to be a successful therapy in patients presenting with CNV secondary to ESCS.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145132442","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}
Charu Vyas, Sitara H Hirji, Meera S Ramakrishnan, Vlad Diaconita, Sonali D Talsania
{"title":"Bilateral paracentral acute middle maculopathy in a pediatric patient with sickle cell disease.","authors":"Charu Vyas, Sitara H Hirji, Meera S Ramakrishnan, Vlad Diaconita, Sonali D Talsania","doi":"10.1097/ICB.0000000000001808","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001808","url":null,"abstract":"<p><strong>Purpose: </strong>To describe the clinical course of a pediatric patient with sickle cell disease (SCD) presenting with isolated bilateral paracentral acute middle maculopathy (PAMM) in the setting of influenza A.</p><p><strong>Methods: </strong>Fundus photography, fundus autofluorescence, optical coherence tomography (OCT) and OCT-angiography (OCTA) were obtained.</p><p><strong>Results: </strong>An 8-year-old male with a history of HbSS SCD, ADHD and no prior sickle cell retinopathy presented with new onset blurred vision, headache, photopsia, and metamorphopsia along with symptoms of an upper respiratory infection. Fundus examination showed bilateral placoid whitening of the temporal macula and corresponding OCT imaging revealed hyperreflectivity and thickening of the inner nuclear layer (INL), consistent with bilateral PAMM lesions. Thought to be a harbinger of a sickle crisis, the patient received hydroxyurea 500 mg daily and demonstrated partial recovery of symptoms at 2-month follow-up.</p><p><strong>Conclusion: </strong>The bilaterality and symmetry of this patient's presentation suggests a systemic vaso-occlusive state, whereby sickled red blood cells occluded the retinal capillaries as a function of the location and organization of the retinal capillary vasculature. The patient's risk factors for the development of a sickling event included recent viral infection and use of sympathomimetic medication. PAMM lesions can often be harbingers of larger ischemic events such as retinal artery or vein occlusions. Therefore, in SCD patients, presentation of PAMM warrants urgent evaluation of sickling triggers, treatment and prophylaxis.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145132418","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}
Axelle M Cools, Bert Maertens, Karen De Letter, Sarah Raevens, Elke O Kreps
{"title":"Retinal vasculitis associated with type M2 antimitochondrial antibodies.","authors":"Axelle M Cools, Bert Maertens, Karen De Letter, Sarah Raevens, Elke O Kreps","doi":"10.1097/ICB.0000000000001809","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001809","url":null,"abstract":"<p><strong>Purpose: </strong>We report a case of bilateral retinal vasculitis in a patient with type M2 antimitochondrial antibodies (AMA-M2).</p><p><strong>Method: </strong>Observational case report.</p><p><strong>Results: </strong>A 35-year-old female presented with photopsia without reduction in visual acuity in either eye. Ocular examination revealed bilateral retinal vasculitis, mainly affected the retinal veins, which was more extensive in the left eye. Both the large, central veins as the small, peripheral veins showed inflammatory involvement, without occlusive disease. Broad systemic investigation including blood analysis, chest and brain imaging showed no abnormalities, except for AMA-M2 positivity. Hepatologic and rheumatologic assessment showed no signs of cholestasis or associated connective tissue disease. The patient responded favorably to systemic steroid treatment with adjunctive mycophenolate mofetil (1g twice daily). Ongoing follow-up was arranged to monitor the hepatic function given the substantial risk of developing primary biliary cholangitis (PBC).</p><p><strong>Conclusion: </strong>Retinal vasculitis may be associated with AMA-M2 positivity. This case expands on the diverse spectrum of autoimmune diseases associated with type M2 antimitochondrial antibodies. Whether these antibodies play a direct role within the etiopathogenesis of retinal vasculitis or represent an epiphenomenon, remains elusive.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145132451","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}
Colin P Froines, Samuel A Whittier, Justin L Gottlieb
{"title":"Metallic Retinal Artery Embolus following Pipeline Embolization Device.","authors":"Colin P Froines, Samuel A Whittier, Justin L Gottlieb","doi":"10.1097/ICB.0000000000001811","DOIUrl":"https://doi.org/10.1097/ICB.0000000000001811","url":null,"abstract":"<p><strong>Purpose: </strong>To describe a case of asymptomatic metallic retinal embolus following stent in stent Pipeline embolization device (PED) placement.</p><p><strong>Methods: </strong>Case report of a 41-year-old female with left ophthalmic artery aneurysm treated twice with PED referred to ophthalmology for incidentally found refractile object in left eye macula.</p><p><strong>Results: </strong>Clinical findings notable for fundoscopic exam with refractile foreign body at the temporal edge of fovea. Object was observed to be intravascular on optical coherence tomography (OCT) and without vascular occlusion on OCT angiography.</p><p><strong>Conclusions: </strong>Metallic embolus appears to be a rare complication of PED placement.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145132460","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}