Case Reports in Ophthalmology最新文献

Iatrogenic Bilateral Sequential Ocular Sympathetic (Horner Syndrome) Turned Bilateral Parasympathetic Pupil Involvement Associated with Long Coronavirus-Related Dysautonomia: A Case Report. 医源性双侧序贯眼交感神经（Horner综合征）转为双侧副交感神经瞳孔受累与长冠状病毒相关的自主神经异常1例报告

IF 0.6

Case Reports in Ophthalmology Pub Date : 2026-09-24 eCollection Date: 2026-01-01 DOI: 10.1159/000550937

Celeste Yiqi Wang, Jennifer K Dunnigan, Elizabeth O Arogundade, Sanjana Jaiswal, Kenneth C Lao, Andrew G Lee

{"title":"Iatrogenic Bilateral Sequential Ocular Sympathetic (Horner Syndrome) Turned Bilateral Parasympathetic Pupil Involvement Associated with Long Coronavirus-Related Dysautonomia: A Case Report.","authors":"Celeste Yiqi Wang, Jennifer K Dunnigan, Elizabeth O Arogundade, Sanjana Jaiswal, Kenneth C Lao, Andrew G Lee","doi":"10.1159/000550937","DOIUrl":"10.1159/000550937","url":null,"abstract":"Introduction: This report presents an unusual case of sequential, pharmacologically confirmed iatrogenic bilateral Horner syndrome followed by bilateral Adie's tonic pupil, highlighting the spectrum of ocular dysautonomia associated with long coronavirus disease 2019 (COVID-19).Case presentation: A 41-year-old woman with a history of coronavirus disease 2019 reinfection and multiple comorbidities developed pharmacologically confirmed bilateral Horner syndrome after bilateral stellate ganglion blocks. Subsequent worsening of long COVID-19 symptoms alongside systemic dysautonomia emerged, including postural orthostatic tachycardia syndrome, orthostatic hypotension, and mast cell activation syndrome. The patient then presented with bilateral, poorly reactive, enlarged pupils, and light-near dissociation. Bilateral Adie's tonic pupil was pharmacologically confirmed. Neuroimaging and laboratory workup were unremarkable.Conclusion: As more cases of long COVID-19 emerge, physicians should be aware that long COVID-19 can manifest with rare neuro-ophthalmic presentations, including bilateral pupillary autonomic dysfunction.","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"17 1","pages":"934-941"},"PeriodicalIF":0.6,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13609167/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149036616","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

Eye Pain in Dejerine-Roussy Syndrome: A Rare Post-Thalamic Stroke Manifestation - A Case Report. Dejerine-Roussy综合征的眼痛：一种罕见的丘脑卒中后表现- 1例报告。

IF 0.6

Case Reports in Ophthalmology Pub Date : 2026-09-21 eCollection Date: 2026-01-01 DOI: 10.1159/000551353

Shravya Yarlagadda, William Dietlein, Sanjana Jaiswal, Elizabeth O Arogundade, Geulah Ben-David, Andrew G Lee

{"title":"Eye Pain in Dejerine-Roussy Syndrome: A Rare Post-Thalamic Stroke Manifestation - A Case Report.","authors":"Shravya Yarlagadda, William Dietlein, Sanjana Jaiswal, Elizabeth O Arogundade, Geulah Ben-David, Andrew G Lee","doi":"10.1159/000551353","DOIUrl":"10.1159/000551353","url":null,"abstract":"Introduction: Dejerine-Roussy syndrome presents with contralateral neuropathic pain following a thalamic stroke. Previously reported presentations included contralateral upper and lower extremity pain, along with paralysis, spasticity, and other classic post-stroke manifestations. Facial and eye pain following a stroke is infrequent, and previous reports of facial and eye pain following a stroke are limited to brainstem infarctions.Case presentation: A 69-year-old male patient reported severe right-sided facial and eye pain following a previous left-sided thalamic hemorrhagic stroke. The patient is positive for multiple vasculopathic risk factors and is continuing residual right arm and leg spastic paralysis management. The patient's neuropathic pain is being treated with gabapentin, amitriptyline, trazodone, and ibuprofen. Interestingly, his facial and ocular pain resolved following cataract removal.Conclusion: The location of this patients' stroke, and his unique presentation, highlight a rare ocular manifestation clinicians should be aware of for their stroke patients' and their post-stroke management. Further, the unique resolution of this pain prompts more exploration into neuropathic pain treatment.","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"17 1","pages":"942-946"},"PeriodicalIF":0.6,"publicationDate":"2026-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13609163/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149036595","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

Cholesterol Granuloma of the Orbit Presenting with Gaze Amaurosis: A Case Report. 眼眶胆固醇肉芽肿伴眼球黑朦1例。

IF 0.6

Case Reports in Ophthalmology Pub Date : 2026-09-18 eCollection Date: 2026-01-01 DOI: 10.1159/000551896

Layla Shere, Tracy Lu, Patricia Chévez-Barrios, Amina Malik

{"title":"Cholesterol Granuloma of the Orbit Presenting with Gaze Amaurosis: A Case Report.","authors":"Layla Shere, Tracy Lu, Patricia Chévez-Barrios, Amina Malik","doi":"10.1159/000551896","DOIUrl":"10.1159/000551896","url":null,"abstract":"Introduction: Cholesterol granuloma is a rare, benign, cystic lesion of the orbit, and fewer than 200 cases have been reported in the English-language literature. We report an unusual case of orbital cholesterol granuloma manifesting as acute-onset gaze-evoked amaurosis, an association not previously described.Case presentation: A 39-year-old male presented with an acute, crescent-shaped scotoma in downgaze of the right eye, associated with a 5-day history of mild right upper eyelid swelling. Visual acuity, ocular motility, and the rest of his ocular examination were normal. Imaging revealed a 1.7-cm cystic expansile lesion of the right superotemporal orbital roof causing bone remodeling. The lesion was biopsied through a superolateral eyelid crease incision, revealing a friable yellow mass with dark fluid. Histopathology demonstrated cholesterol clefts surrounded by foamy histiocytes, multinucleated giant cells, and hemosiderin-laden macrophages, confirming diagnosis of cholesterol granuloma. Cultures were positive for Propionibacterium acnes and Staphylococcus species, for which the patient completed a short course of oral antibiotics. Postoperatively, visual symptoms resolved immediately, and no recurrence was observed over 6 months.Conclusion: This is the first reported case of orbital cholesterol granuloma presenting with gaze-evoked amaurosis. Although these lesions usually cause progressive proptosis, they may rarely produce transient, gaze-dependent visual symptoms due to localized compressive effects. Complete surgical excision via an eyelid crease approach results in excellent outcomes with minimal recurrence risk and should be considered the treatment of choice.","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"17 1","pages":"1096-1102"},"PeriodicalIF":0.6,"publicationDate":"2026-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13668066/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149191449","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 Dual-Device Strategy: Failed PRESERFLO MicroShunt Connected to an Ahmed ClearPath - Case Report. 新型双设备策略：连接Ahmed ClearPath的PRESERFLO微分流失败案例报告。

IF 0.6

Case Reports in Ophthalmology Pub Date : 2026-08-31 eCollection Date: 2026-01-01 DOI: 10.1159/000551456

Leonie F Keidel, Siegfried G Priglinger, Marc J Mackert

{"title":"Novel Dual-Device Strategy: Failed PRESERFLO MicroShunt Connected to an Ahmed ClearPath - Case Report.","authors":"Leonie F Keidel, Siegfried G Priglinger, Marc J Mackert","doi":"10.1159/000551456","DOIUrl":"10.1159/000551456","url":null,"abstract":"Introduction: The PRESERFLO® MicroShunt is an established filtrating surgery for moderate to advanced glaucoma, yet postoperative scarring may occur in up to one-third of cases, often requiring needling or revision. This case report describes a novel surgical approach in which a scar-compromised PRESERFLO® MicroShunt was connected to an Ahmed ClearPath® 250 mm2 implant to enhance aqueous outflow without introducing an additional tube into the anterior chamber.Case presentation: A 64-year-old patient with advanced primary open-angle glaucoma and recurrent scarring after PRESERFLO® implantation underwent this combined procedure. To revive the failed PRESERFLO® MicroShunt, the Ahmed ClearPath® was used as an extension to the MicroShunt: the tube of the Ahmed ClearPath® was inserted into the PRESERFLO® MicroShunt and secured with a cross suture, followed by coverage with a scleral patch graft. Intraocular pressure decreased to 5-9 mm Hg and remained stable under minimal medication (dorzolamide eyedrops 3×/d) at the 3 months postoperative follow-up visit.Conclusion: This is the first case report that describes the outcome of the connection of the PRESERFLO® MicroShunt to an Ahmed ClearPath®. The described dual-device strategy preserved conjunctival tissue and obviated the need for a second tube in the anterior chamber. This approach represents an effective and tissue-sparing alternative for patients in whom a PRESERFLO® MicroShunt is well positioned but rendered insufficient by scarring.","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"17 1","pages":"886-892"},"PeriodicalIF":0.6,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13529299/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148862985","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

Acute Orbital Inflammation following Neridronate Therapy: A Case Report. 奈利膦酸钠治疗后急性眼眶炎症1例报告。

IF 0.6

Case Reports in Ophthalmology Pub Date : 2026-08-13 eCollection Date: 2026-01-01 DOI: 10.1159/000552707

Sofia Ginelli, Jennifer Cattaneo, Anna Bruno, Francesca Mojana, Simona Caprani, Stefano Ranno

{"title":"Acute Orbital Inflammation following Neridronate Therapy: A Case Report.","authors":"Sofia Ginelli, Jennifer Cattaneo, Anna Bruno, Francesca Mojana, Simona Caprani, Stefano Ranno","doi":"10.1159/000552707","DOIUrl":"10.1159/000552707","url":null,"abstract":"Introduction: Bisphosphonates are known to occasionally induce ocular and orbital inflammation. While most reported cases involve agents such as zoledronate or alendronate, reports associated with neridronate remain exceedingly rare. Early recognition is vital as this condition can be sight-threatening but typically responds well to treatment.Case presentation: We describe a 69-year-old man who developed fever and myalgia, followed by the abrupt onset of severe unilateral orbital inflammation 72 h after receiving an intramuscular injection of neridronic acid. Clinical examination of the left eye revealed acute visual impairment, marked eyelid edema, erythema, ptosis, proptosis, diplopia, and chemosis. Ultrasonography showed posterior scleral thickening (T-sign), while CT and MRI demonstrated diffuse orbital inflammation and intraconal fat involvement with periarterial enhancement, in the absence of infectious foci. Laboratory tests showed elevated C-reactive protein levels. Following the initiation of high-dose oral prednisone (1 mg/kg/day), the patient exhibited rapid clinical improvement within 48 h and near-complete radiologic resolution by 15 days.Conclusion: This case underscores the importance of recognizing neridronate-associated orbital inflammation as a potential adverse reaction, even following intramuscular injection. Despite its severe presentation, the condition typically demonstrates a rapid and favorable response to systemic corticosteroid therapy.","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"17 1","pages":"947-953"},"PeriodicalIF":0.6,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13609169/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149036621","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

A Rare Septuagenarian Patient with a Mild Form of Mucopolysaccharidosis Type IIIC with Ocular Manifestations: A Case Report. 罕见的70多岁轻度粘多糖病IIIC型伴眼部表现1例。

IF 0.6

Case Reports in Ophthalmology Pub Date : 2026-08-01 eCollection Date: 2026-01-01 DOI: 10.1159/000551988

Amber Alzufari, Dania A Rahal, Gerald Schaefer, Sami H Uwaydat

{"title":"A Rare Septuagenarian Patient with a Mild Form of Mucopolysaccharidosis Type IIIC with Ocular Manifestations: A Case Report.","authors":"Amber Alzufari, Dania A Rahal, Gerald Schaefer, Sami H Uwaydat","doi":"10.1159/000551988","DOIUrl":"10.1159/000551988","url":null,"abstract":"Introduction: We present an atypical case of mucopolysaccharidosis (MPS) type IIIC to contribute to the growing understanding of its clinical heterogeneity and expand the known phenotypic spectrum of the disorder. This report describes one of the oldest known patients with genetically confirmed MPS IIIC.Case presentation: The patient received genetic testing in her seventies, revealing variations in the HGSNAT and NAGLU genes, two genes associated with MPS III. Her clinical presentation consisted primarily of retinal dystrophy, diagnosed via clinical presentation in addition to OCT and ERG. The patient also showed signs of peripheral neuropathy which were initially presumed to be idiopathic. She did not exhibit the typical behavioral involvement and craniofacial abnormalities expected of MPS type IIIC.Conclusion: This presentation broadens the recognized clinical spectrum of MPS IIIC and may facilitate earlier diagnosis in adults with similar, seemingly idiopathic findings. Improved recognition of such atypical cases may support timely genetic testing and potential therapeutic options.","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"17 1","pages":"901-907"},"PeriodicalIF":0.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13588611/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149008039","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

Optic Perineuritis Mimicking Optic Nerve Sheath Meningioma: A Case Series. 视神经会膜炎模拟视神经鞘脑膜瘤：一个病例系列。

IF 0.6

Case Reports in Ophthalmology Pub Date : 2026-07-31 eCollection Date: 2026-01-01 DOI: 10.1159/000552959

Rahul S Nanduri, Grace Zhou, Sanjana Jaiswal, Elizabeth O Arogundade, Peter Mortensen, Andrew G Lee

{"title":"Optic Perineuritis Mimicking Optic Nerve Sheath Meningioma: A Case Series.","authors":"Rahul S Nanduri, Grace Zhou, Sanjana Jaiswal, Elizabeth O Arogundade, Peter Mortensen, Andrew G Lee","doi":"10.1159/000552959","DOIUrl":"10.1159/000552959","url":null,"abstract":"Introduction: Optic perineuritis (OPN) can mimic optic nerve sheath meningioma (ONSM) both clinically and radiographically, which may lead to misdiagnosis and inappropriate treatment.Case presentations: We describe 2 cases of autoimmune-related OPN that were initially presumed to be ONSM. The first case involves a 61-year-old African American woman with longstanding vision loss and optic nerve sheath enhancement thought to be sarcoidosis due to its steroid responsiveness and subsequent resolution of radiographic findings. The second case involves a 51-year-old woman with a history of triple-negative breast cancer presenting with monocular vision loss that underwent radiotherapy for presumed ONSM, without any visual improvement. She was later diagnosed with chronic relapsing inflammatory optic neuropathy (CRION) due to the absence of malignancy on imaging, an unremarkable workup, and a steroid-dependent, relapsing course.Conclusion: In both patients, the tram-track sign was seen on magnetic resonance imaging, complicating the diagnostic process. These cases emphasize the importance of recognizing inflammatory optic neuropathies that can masquerade as neoplastic processes. Sarcoidosis is known to mimic ONSM; however, there are currently no reports of CRION mimicking ONSM, to our knowledge. Given the therapeutic implications, including the potential for unnecessary radiation as in the second case, a thorough diagnostic workup is essential prior to initiating definitive treatment.","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"17 1","pages":"1079-1087"},"PeriodicalIF":0.6,"publicationDate":"2026-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13668065/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149191409","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

FLVCR1 Variant as a Cause of Retinal and Neurologic Dysfunction in Retinitis Pigmentosa with Coats-Like Vasculopathy: A Case Report. FLVCR1变异是视网膜色素变性伴衣样血管病变的视网膜和神经功能障碍的原因：1例报告

IF 0.6

Case Reports in Ophthalmology Pub Date : 2026-07-31 eCollection Date: 2026-01-01 DOI: 10.1159/000553046

Dania A Rahal, Siddhi Bhat, Sami H Uwaydat

{"title":"FLVCR1 Variant as a Cause of Retinal and Neurologic Dysfunction in Retinitis Pigmentosa with Coats-Like Vasculopathy: A Case Report.","authors":"Dania A Rahal, Siddhi Bhat, Sami H Uwaydat","doi":"10.1159/000553046","DOIUrl":"10.1159/000553046","url":null,"abstract":"Introduction: We report a unique clinical presentation of a patient with undiagnosed neurologic symptoms in the setting of retinitis pigmentosa (RP) with Coats-like reaction and FLVCR1 variant, expanding the presentation of FLVCR1 variants.Case presentation: A 31-year-old Caucasian female with RP with Coats-like reaction initially presented to our clinic in August 2021 with worsening vision. Genetic testing identified the patient as heterozygous for FLVCR1 c.1092 + 5G>A and FLVCR1 c.1058C>T, p.(Thr353Met). The patient notably had a long-standing history of nyctalopia as well as complex neurologic symptoms without diagnosis. Neurologic presentation over 6 years included migraine headaches, decreased extremity strength, seizure-like episodes, and urinary incontinence. Progressive leg weakness and spasms eventually impaired weight bearing and ambulation. On presentation to the clinic again in February 2025, she reported progressive central vision loss, ocular pain OD, and persistent instability in her legs. OCT revealed cystoid macular edema, attenuated retinal vessels, and a large lipid exudation in the fovea OD. The patient was initiated on anti-VEGF therapy in February. Follow-up OCT 1 month later revealed a reduction in lipid exudation.Conclusion: This case underscores the importance of considering an underlying FLVCR1 variant in patients with retinitis pigmentosa and atypical neurologic symptoms. Despite prior genetic testing, this patient's neurologic findings remained undiagnosed, highlighting the need for greater clinical awareness of neuro-ophthalmic manifestations of rare genetic disorders. Anti-VEGF therapy appears effective in reducing lipid exudation in Coats-like retinopathy.","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"17 1","pages":"893-900"},"PeriodicalIF":0.6,"publicationDate":"2026-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13577657/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148975817","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

Dual Etiology in Optic Disc Elevation: A Pediatric Case with Coexisting Optic Disc Drusen and Elevated Cerebrospinal Fluid Pressure. 视盘升高的双重病因：视盘囊肿和脑脊液压力升高并存的儿童病例。

IF 0.6

Case Reports in Ophthalmology Pub Date : 2026-07-27 eCollection Date: 2026-01-01 DOI: 10.1159/000553372

Tülin Öğreden, Yusuf Akdağ

{"title":"Dual Etiology in Optic Disc Elevation: A Pediatric Case with Coexisting Optic Disc Drusen and Elevated Cerebrospinal Fluid Pressure.","authors":"Tülin Öğreden, Yusuf Akdağ","doi":"10.1159/000553372","DOIUrl":"10.1159/000553372","url":null,"abstract":"Introduction: In the presence of bilateral optic disc elevation with supportive clinical findings, papilledema should be considered the primary diagnosis. Particularly in bilateral presentations, optic disc drusen must be carefully evaluated in the differential diagnosis. The coexistence of these entities may complicate clinical assessment and follow-up. This case report presents a patient initially managed with a presumptive diagnosis of papilledema who was subsequently found to have concomitant drusen during follow-up.Case presentation: A 13-year-old patient presented with complaints of decreased vision and headache. Visual acuity was 0.4 in the right eye and 1.0 in the left eye. Fundus examination revealed bilateral optic disc elevation, more prominent in the right eye. Cranial magnetic resonance imaging findings were consistent with increased intracranial pressure. During follow-up, the expected regression in optic disc elevation was not observed. Increased intracranial pressure was confirmed by a lumbar puncture with an opening pressure of 42 cm H2O, while optic disc drusen was confirmed by ultrasonography and fundus autofluorescence imaging.Conclusion: Optic disc drusen may mimic papilledema but can also coexist with true papilledema. In cases with an atypical clinical course, multimodal imaging techniques contribute significantly to the differential diagnosis.","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"17 1","pages":"1088-1095"},"PeriodicalIF":0.6,"publicationDate":"2026-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13668071/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149191392","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

Clinical Insights and Genetic Implications: "A Comprehensive Case Series of Two Siblings with Cohen Syndrome". 临床见解和遗传意义：“两个兄弟姐妹与科恩综合征的综合病例系列”。

IF 0.6

Case Reports in Ophthalmology Pub Date : 2026-07-27 eCollection Date: 2026-01-01 DOI: 10.1159/000553262

Sumayah A Alzahrani, Khalid F Alharbi, Rafaa I Babgi

{"title":"Clinical Insights and Genetic Implications: \"A Comprehensive Case Series of Two Siblings with Cohen Syndrome\".","authors":"Sumayah A Alzahrani, Khalid F Alharbi, Rafaa I Babgi","doi":"10.1159/000553262","DOIUrl":"10.1159/000553262","url":null,"abstract":"Introduction: Cohen syndrome is a rare autosomal recessive developmental disorder with various clinical manifestations. These include failure to thrive, hypotonia, intellectual disability, pigmentary retinopathy, myopia, nyctalopia, microphthalmia, acquired microcephaly, truncal obesity, joint hypermobility, intermittent neutropenia, and many other less frequent or subtle features. The condition is associated with mutations in the VPS13B (vacuolar protein sorting 13 homolog B) gene, on chromosome 8. Over 150 mutations in VPS13B have been reported in more than 200 patients with Cohen syndrome. Causative mutations include nonsense, missense, indeland splice-site variants.Case presentation: We report 2 siblings with Cohen syndrome who lacked the typical myopic phenotype and instead demonstrated significant hyperopia: +5.00-1.00*175 right eye (RE) and +5.00-1.50*180 left eye (LE) for the first case, and +3.00-1.00*180 (RE), +3.00-1.00*10 (LE) for her sister. Comprehensive ophthalmologic evaluation was performed, including fundus photography, optical coherence tomography (OCT), and electroretinography. Relevant literature was reviewed and correlated with their clinical features and genetic findings. This observation underscores the importance of reevaluating the ophthalmic manifestations and genetic spectrum of Cohen syndrome.Conclusions: To our knowledge, this is the first report of Cohen syndrome cases presenting with hyperopia rather than myopia. Further studies are necessary to establish the full range of ophthalmic presentations and their genetic implications in Cohen syndrome.","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"17 1","pages":"916-923"},"PeriodicalIF":0.6,"publicationDate":"2026-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13588614/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149007972","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