Case Reports in Ophthalmology最新文献

{"title":"Visual Recovery in Leber's Hereditary Optic Neuropathy Plus: A Case Report and Literature Insight.","authors":"Radhika Paranjpe, Himani Yadav, Preethi Abraham, Kalibo Jakhalu","doi":"10.1159/000547946","DOIUrl":"10.1159/000547946","url":null,"abstract":"<p><strong>Introduction: </strong>Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder that primarily affects young men, leading to subacute, painless, bilateral loss of central vision. It is caused by point mutations in mitochondrial DNA, especially those involving the <i>MT-ND1</i>, <i>MT-ND4</i>, and <i>MT-ND6</i> genes, which disrupt complex I function in the mitochondrial respiratory chain.</p><p><strong>Case presentation: </strong>We describe an 18-year-old male cricket player who presented with a 6-month history of gradually worsening, painless visual loss in both eyes. His best corrected visual acuity was 6/60 in the right eye and 3/60 in the left eye. Color vision was reduced in the left eye but improved when tested with a red filter, raising suspicion of optic nerve pathology. Fundus examination revealed subtle hyperemic optic discs, and visual field testing identified central and paracentral scotomas. MRI of the orbits showed bilateral T2 hyperintensities in the intraorbital portions of the optic nerves. Genetic testing confirmed a homoplasmic MT:14484C>T mutation in the <i>MT-ND6</i> gene. The patient also reported systemic symptoms including palpitations and excessive sweating. Cardiac evaluation revealed mitral valve prolapse, sinus tachycardia, and elevated blood pressure. These findings led to a diagnosis of Leber's hereditary optic neuropathy plus (LHON plus). He was started on coenzyme Q10 and oral nutritional supplements. Remarkably, over the course of a year, he regained full visual acuity with only residual optic disc pallor.</p><p><strong>Conclusion: </strong>This case underscores the importance of considering LHON plus in young patients with bilateral optic neuropathy and systemic features, particularly when the MT:14484C>T mutation is present, as early mitochondrial support can lead to favorable outcomes.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"686-692"},"PeriodicalIF":0.6,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503776/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145249967","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}

{"title":"Eight-And-A-Half Syndrome Treated with Stem Cell Therapy: Are We There Yet? A Case Report.","authors":"Salmarezka Dewiputri, Annisa C Permadi, Ajeng S Kirana, Mohamad Sidik, Yetty Ramli","doi":"10.1159/000548081","DOIUrl":"10.1159/000548081","url":null,"abstract":"<p><strong>Introduction: </strong>Eight-and-a-half syndrome is a rare neuro-ophthalmologic condition that is often caused by stroke and requires comprehensive ophthalmologic and neurologic management. Stem cell therapy has emerged as a novel and promising candidate approach for the treatment of stroke. This case highlights the potential of stem cell therapy in treating eight-and-a-half syndrome associated with ischemic stroke.</p><p><strong>Case presentation: </strong>This report presents a 65-year-old male who has experienced double vision for 1 month before admission. Physical examination revealed slight esotropia, horizontal gaze palsy to the right side, incomplete adduction of the right eye, gaze-evoked nystagmus to the left side, and right-sided facial and limb weakness due to ischemic strokes. Visual field impairment was right inferior homonymous quadrantanopia. Based on these findings, the patient was diagnosed with one-and-a-half syndrome and facial nerve weakness, together forming the classic presentation of eight-and-a-half syndrome. He had two cerebrovascular events, only a week apart, and a background history of subsequent atrial fibrillation. MRI revealed left temporoparietal and pontine infarcts. Despite thrombolysis and thrombectomy, the symptoms persisted. He later received intravenous and intrathecal stem cell therapy, showing significant improvement in gaze palsy, visual field, and motor function within a month.</p><p><strong>Conclusion: </strong>Stem cell therapy might be advantageous for patients with eight-and-a-half syndrome due to ischemic stroke in the subacute and chronic phases.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"703-710"},"PeriodicalIF":0.6,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503839/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145249738","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}

{"title":"Unilateral Peri-Orbital Oedema and Mechanical Ptosis: An Unusual Case Presentation of Rosacea.","authors":"Sze Wai Rosa Li, Noah Clancy, Laszlo Intzedy, Natalie Stone, Ebube Obi","doi":"10.1159/000548178","DOIUrl":"10.1159/000548178","url":null,"abstract":"<p><strong>Introduction: </strong>Rosacea is an inflammatory skin condition that can present with varied ophthalmic manifestations. It is often overlooked by clinicians especially when unilateral in presentation leading to diagnostic delay and a resultant psychosocial impact. We aimed to present a unique case of ocular rosacea, highlighting the difficulty in therapeutic challenges and diagnoses in such rare cases.</p><p><strong>Case presentation: </strong>A 64-year-old Caucasian man presented with a 9-month history of persistent painless swelling of the right upper eyelid and secondary ptosis. His ophthalmic examination, serology, and MRI were otherwise normal besides mild meibomian gland dysfunction. Punch biopsy results were inconsistent and initially led to a misdiagnosis of benign squamous papillomata and, later, a differential diagnosis of dermatomyositis. He was trialled on appropriate management for these conditions without any benefit. Repeat histopathology was suggestive of rosacea, and given the persistence of symptoms despite multiple treatments, he was successfully managed with a right upper lid debulking biopsy transcutaneous blepharoplasty. Histopathological analysis of the debulking biopsy confirmed the diagnosis of rosacea, with additional features indicative of lymphoedema. Upon follow-up, there was resolution of lid swelling.</p><p><strong>Conclusion: </strong>Due to the non-specific nature of isolated ocular rosacea presentations, it can be easily misdiagnosed and, therefore, should always be considered as a differential diagnosis in persistent peri-orbital oedema. It can additionally pose significant therapeutic challenges for ophthalmologists, underscoring the importance of improving our understanding of ocular rosacea. Further, we have shown the effectiveness of surgical debulking in its management.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"677-685"},"PeriodicalIF":0.6,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12500299/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145243906","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}

{"title":"Catastrophic Sequelae of Corneal Melt from Severe Active Thyroid Eye Disease in a Patient with Substance Use Disorder: A Case Report.","authors":"Bahram Eshraghi, Sara KamaliZonouzi, Mohsen Pourazizi, Sarah Ghorbani","doi":"10.1159/000548177","DOIUrl":"10.1159/000548177","url":null,"abstract":"<p><strong>Introduction: </strong>Thyroid eye disease (TED) is a known complication of Graves' disease, but severe presentations with bilateral corneal melting ulcers are rare. Simultaneous substance use disorder might make the disease management more challenging.</p><p><strong>Case presentation: </strong>Herein, we present a 29-year-old man with a history of Graves' disease who, despite prior hospitalization for milder symptoms, experienced a deterioration of his condition, leading to bilateral corneal melting ulcers. He was treated with fortified ophthalmic antibiotic drops, and methimazole dosage was increased. Intravenous methylprednisolone and mycophenolate mofetil were also started. Urgent orbital decompression on medial and inferior walls, canthotomy/cantholysis, and medial and lateral tarsorrhaphy were performed, followed by conjunctival flap placement and bilateral total blepharorrhaphy. Despite comprehensive treatment, the patient exhibited a poor therapeutic response and ultimately retained only light perception in both eyes.</p><p><strong>Conclusion: </strong>The patient's complex medical history including homelessness and substance abuse complicated both diagnosis and management. This case highlights the challenges in treating severe TED and underscores the importance of timely intervention and patient compliance.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"671-676"},"PeriodicalIF":0.6,"publicationDate":"2025-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503727/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145250006","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}

{"title":"Choroidal Neovascularization following Intra-Arterial Melphalan Chemotherapy for Retinoblastoma.","authors":"Noorhan Amani, Kelvin Du, Michael Goldbaum, Nathan L Scott","doi":"10.1159/000547747","DOIUrl":"10.1159/000547747","url":null,"abstract":"<p><strong>Introduction: </strong>We present the unique case of a pediatric patient who underwent intra-arterial melphalan chemotherapy and subsequently developed choroidal neovascularization.</p><p><strong>Case presentation: </strong>A 6-year-old male with a history of nonhereditary unilateral group D retinoblastoma treated with intra-arterial melphalan, cryotherapy, and diode laser consolidative therapy presented to establish care. Initial evaluation revealed a regressed retinoblastoma lesion with chorioretinal scars and calcification scattered in the midperiphery. Notably, the macula was largely within normal limits without evidence of prior malignancy or scarring. However, 7 months after establishing care, imaging was significant for intraretinal fluid, subretinal fluid, and subfoveal fibrosis of the treated eye, suggestive of choroidal neovascularization. The patient was managed with anti-VEGF therapy with resolution of subretinal fluid and improved visual acuity.</p><p><strong>Conclusion: </strong>This case represents the first description and management of a patient developing choroidal neovascularization after receiving intra-arterial melphalan treatment for retinoblastoma. Careful monitoring of patients following intra-arterial melphalan chemotherapy treatment is critical due to the potential for vision loss, including choroidal neovascularization, which may be an under-reported complication.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"649-654"},"PeriodicalIF":0.6,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503736/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145249757","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}

{"title":"A Rare Case of <i>Streptococcus dysgalactiae</i> Panophthalmitis and Concurrent Septic Arthritis from Hematogenous Spread: A Case Report.","authors":"Lucas Goetz, Michael Eide","doi":"10.1159/000547764","DOIUrl":"10.1159/000547764","url":null,"abstract":"<p><strong>Introduction: </strong>Panophthalmitis is a severe ocular infection with significant morbidity, most commonly caused by <i>Staphylococcus aureus</i> or <i>Streptococcus pneumoniae</i>. <i>Streptococcus dysgalactiae</i> is a rare cause of panophthalmitis, and its involvement in concurrent systemic infections is exceedingly uncommon.</p><p><strong>Case presentation: </strong>We report a case of <i>S. dysgalactiae</i> panophthalmitis in an elderly male patient, associated with bacteremia and septic arthritis. Despite early antimicrobial therapy, the infection progressed rapidly, ultimately requiring evisceration of the affected eye.</p><p><strong>Conclusion: </strong>This case underscores the importance of early recognition, aggressive treatment, and systemic evaluation in patients with rapidly progressive ocular infections caused by atypical organisms.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"655-660"},"PeriodicalIF":0.6,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503731/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145250061","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}

{"title":"Young-Onset Central Retinal Vein Occlusion with Antiphospholipid Syndrome and Hypophysitis.","authors":"Mariko Kawata, Hiromasa Sawamura, Shuichiro Aoki, Kohdai Kitamoto, Yurika Aoyama, Ryo Terao, Tatsuya Inoue, Ryo Obata, Keiko Azuma","doi":"10.1159/000548080","DOIUrl":"10.1159/000548080","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of the study was to describe a rare case of central retinal vein occlusion (CRVO) in an adolescent with primary antiphospholipid syndrome (APS) and coexisting lymphocytic hypophysitis (LH).</p><p><strong>Case presentation: </strong>A 17-year-old female presented with acute vision loss in the right eye and was diagnosed with CRVO. She had no cardiovascular risk factors. Fundoscopy revealed optic disc swelling, macular exudates, and venous dilation. Fluorescein angiography demonstrated optic disc leakage without any signs of vasculitis. IgG anticardiolipin antibodies were persistently elevated on two separate occasions, thereby fulfilling the 2023 ACR/EULAR criteria for APS. Magnetic resonance imaging revealed pituitary stalk thickening and asymmetrical intrasellar enhancement, consistent with LH, although visual field loss and optic nerve abnormalities were not detected. A single intravitreal injection of ranibizumab was effective, resulting in complete resolution of serous retinal detachment and improvement in visual acuity. Anticoagulants were also administered. At the 12-month follow-up, no progression of LH was observed.</p><p><strong>Conclusion: </strong>Coagulation should be thoroughly evaluated in cases of early-onset CRVO without systemic risk factors. This case highlights the importance of considering APS in young patients with CRVO without systemic risk factors. There is a shared immunologic predisposition when coexisting autoimmune disorders such as LH.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"693-702"},"PeriodicalIF":0.6,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503844/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145249951","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}

{"title":"Protein Analysis of the Surface of Orthokeratology Lenses.","authors":"Lars Fjord Garvey, Jennifer Liao, Nikolay Boychev, Marlies Gijs, Ananya Datta, Bent Honoré, Henrik Vorum, Lasse Jørgensen Cehofski, Flemming Møller, Trine Møldrup Jakobsen","doi":"10.1159/000547905","DOIUrl":"10.1159/000547905","url":null,"abstract":"<p><strong>Introduction: </strong>Overnight orthokeratology (OK) lenses control myopia in children, but the underlying mechanism is unclear. We hypothesized that ocular surface proteins might deposit directly on the surface of OK lenses during wear. This could offer a noninvasive method for investigating the potential molecular mechanisms behind the myopia control effect of OK lenses.</p><p><strong>Case presentation: </strong>A healthy 30-year-old male without prior contact lens wear history wore bespoke OK lenses overnight. After lens removal, proteomic analysis was performed using nano liquid chromatography tandem mass spectrometry to identify proteins on the surface of the lenses. Proteomic analysis identified 423 proteins on the right OK lens and 303 on the left, with 273 proteins common to both lenses. The proteins originated from various cellular compartments.</p><p><strong>Conclusion: </strong>Ocular surface proteins can be detected directly from OK lenses, offering a novel approach to studying the molecular mechanisms of myopia control.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"644-648"},"PeriodicalIF":0.6,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503728/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145249941","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}

{"title":"Metastasis of Neuroendocrine Carcinoma Masquerading as a Chalazion.","authors":"Sofía Ramos-Bartolomei, José López-Fontanet, Sofía Muns-Aponte, José Raúl Montes, Miguel Noy","doi":"10.1159/000547525","DOIUrl":"10.1159/000547525","url":null,"abstract":"<p><strong>Introduction: </strong>Nonhealing or rapidly growing lesions should raise suspicion for malignancy, especially in a patient with a prior history of cancer. The purpose of this case was to highlight the importance of a thorough clinical history. A high index of suspicion and low threshold for biopsy are important, as is a fast diagnosis, as they can make a difference in adequate treatment and prognosis.</p><p><strong>Case presentation: </strong>We present a case of a 46-year-old female with a history of invasive ductal carcinoma of the breast presenting with a rapidly growing painless right lower eyelid lesion with biopsy remarkable for a high-grade neuroendocrine carcinoma suspected to be a result of metastasis with rare transformation of breast ductal carcinoma.</p><p><strong>Conclusion: </strong>She had an eyelid lesion recurrence less than 2 months after biopsy and excision, demonstrating the importance of early detection and biopsy with immunohistochemistry to target malignant cells and improve life quality and expectancy.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"628-632"},"PeriodicalIF":0.6,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503641/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145249929","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}

{"title":"Sparks and Scars: A Case Series on Firecracker Ocular Injuries during Diwali.","authors":"Iqra Mushtaq, Kalibo Jakhalu, Himani Yadav","doi":"10.1159/000547765","DOIUrl":"10.1159/000547765","url":null,"abstract":"<p><strong>Introduction: </strong>Diwali, a widely celebrated festival across India, is traditionally associated with the extensive use of fireworks. While fireworks add to the festive atmosphere, they pose significant safety risks, particularly to the eyes. Firework-induced ocular injuries range from minor burns to severe trauma, often resulting in lasting visual impairment. This case series examines the range of ocular injuries observed during Diwali, their clinical outcomes, and highlights preventive measures to address this ongoing public health concern.</p><p><strong>Case presentation: </strong>This retrospective case series includes patients who presented with firework-related ocular injuries at a tertiary eye care center during November 2024, within a week of the Diwali festival. Comprehensive patient histories were documented, followed by detailed ocular examinations. Data collected included injury mechanisms, clinical findings, and treatments administered. The age of the patients ranged from 7 to 35 years, with a predominance of closed globe injuries (5 out of 6 cases), while 1 case was involved in an open globe injury. Injuries were categorized using the Birmingham Eye Trauma Terminology (BETT) into open globe and closed globe injuries and classified according to the Ocular Trauma Scoring System (OTSS). Surgical intervention was required in 2 cases (33%), primarily involving more severe injuries such as conjunctival-scleral tears and traumatic cataracts.</p><p><strong>Conclusion: </strong>Firework-related ocular injuries during Diwali remain a pressing public health issue, especially for children and bystanders. Although timely medical intervention can improve visual outcomes, severe injuries often result in irreversible vision loss. It is imperative to raise public awareness about firework safety, encourage the use of protective eyewear, and enforce stricter regulations on firework usage. Manufacturers should be mandated to produce safer, less hazardous fireworks. Additionally, directives for registering ocular injury cases at hospitals should be implemented to better understand and address this preventable problem.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"633-643"},"PeriodicalIF":0.6,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503734/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145249932","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}