Case Reports in Ophthalmological Medicine最新文献

筛选
英文 中文
Disseminated Tuberculosis With Ocular Involvement After 12 Years of Anti-TNF-α Therapy. 抗tnf -α治疗12年后伴有眼部受累的播散性结核。
IF 0.8
Case Reports in Ophthalmological Medicine Pub Date : 2026-10-18 eCollection Date: 2026-01-01 DOI: 10.1155/crop/1351144
Muhammad Ali Muslimani, Alberto Ardizzone, Silvia Rossi, Francesco Siviero, Armanda Leka, Marco Vecchia, Alessandra Ricciardi, Pietro Valsecchi, Raffaele Bruno, Angela Maria Di Matteo
{"title":"Disseminated Tuberculosis With Ocular Involvement After 12 Years of Anti-TNF-<i>α</i> Therapy.","authors":"Muhammad Ali Muslimani, Alberto Ardizzone, Silvia Rossi, Francesco Siviero, Armanda Leka, Marco Vecchia, Alessandra Ricciardi, Pietro Valsecchi, Raffaele Bruno, Angela Maria Di Matteo","doi":"10.1155/crop/1351144","DOIUrl":"https://doi.org/10.1155/crop/1351144","url":null,"abstract":"<p><strong>Background: </strong>Ocular tuberculosis (TB) is an uncommon yet potentially vision-threatening manifestation of <i>Mycobacterium tuberculosis</i>, particularly difficult to diagnose in immunocompromised individuals. The increasing use of anti-tumor necrosis factor-<i>α</i> (anti-TNF-<i>α</i>) agents has markedly heightened the risk of TB reactivation, often with disseminated or extrapulmonary involvement despite negative baseline screening.</p><p><strong>Case presentation: </strong>We describe a 52-year-old woman with rheumatoid arthritis receiving long-term adalimumab and methotrexate who developed disseminated TB with pulmonary, splenic, and ocular involvement after 12 years of anti-TNF-<i>α</i> therapy. Baseline screening had shown a negative tuberculin skin test and an indeterminate interferon-<i>γ</i> release assay. She presented with constitutional and respiratory symptoms, whereas chest computed tomography demonstrated diffuse micronodular infiltrates consistent with miliary TB. Microbiological confirmation was obtained via bronchoalveolar lavage. Ophthalmologic evaluation revealed bilateral choroidal granulomas with subretinal edema, leading to a diagnosis of ocular TB. Standard antitubercular therapy (ATT) was initiated but required modification due to drug-induced liver injury. Adjunctive systemic corticosteroids were introduced after antimicrobial therapy and gradually tapered. The patient achieved progressive clinical, radiological, and ophthalmologic improvement, with gradual regression of choroidal lesions.</p><p><strong>Discussion: </strong>This case underscores the persistent long-term risk of TB reactivation during prolonged anti-TNF-<i>α</i> therapy and highlights the limitations of current screening strategies in immunosuppressed patients. Ocular TB requires integration of systemic, clinical, and imaging findings; in this patient, microbiologically confirmed disseminated TB together with characteristic bilateral choroidal granulomas supported a definitive diagnosis. Management relies on prompt ATT, discontinuation of immunosuppression, and judicious use of adjunctive corticosteroids. Long-term follow-up is essential given the risk of persistent lesions and late recurrence. Reintroduction of biologic therapy may be feasible in selected cases but requires careful risk stratification.</p><p><strong>Conclusion: </strong>TB should remain a diagnostic consideration in patients receiving biologic therapy who develop compatible systemic or ocular manifestations, even after long-term treatment and negative baseline screening. Close multidisciplinary collaboration is essential for the diagnosis and management of ocular TB in this population.</p>","PeriodicalId":9603,"journal":{"name":"Case Reports in Ophthalmological Medicine","volume":"2026 ","pages":"1351144"},"PeriodicalIF":0.8,"publicationDate":"2026-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13678034/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149223438","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 Meibomian Gland Concretion Presenting as a Palpable Eyelid Mass: A Rare Case Report. 睑腺结缔组织表现为可触及的眼睑肿块:一罕见病例报告。
IF 0.8
Case Reports in Ophthalmological Medicine Pub Date : 2026-10-09 eCollection Date: 2026-01-01 DOI: 10.1155/crop/5352956
Daisuke Hasegawa, Yui Nishijima, Satoko Kujiraoka, Naoyuki Matsumoto, Tatsuya Mimura
{"title":"A Meibomian Gland Concretion Presenting as a Palpable Eyelid Mass: A Rare Case Report.","authors":"Daisuke Hasegawa, Yui Nishijima, Satoko Kujiraoka, Naoyuki Matsumoto, Tatsuya Mimura","doi":"10.1155/crop/5352956","DOIUrl":"https://doi.org/10.1155/crop/5352956","url":null,"abstract":"<p><strong>Background: </strong>Meibomian gland obstruction is a condition in which lipid secretions accumulate within the meibomian gland duct because of blockage of the gland orifice, leading to inflammation and the formation of a nodular lesion. In most cases, whitish lipid material can be observed at the eyelid margin. However, the formation of a true concretion within the meibomian gland duct is uncommon. Furthermore, large or clinically apparent meibomian gland concretions presenting as a palpable eyelid mass appear to be uncommon. In this report, we describe a rare presentation in which multiple interconnected concretions formed a clinically visible and palpable eyelid-margin mass.</p><p><strong>Case presentation: </strong>A 64-year-old woman presented with a painful mass in the right lower eyelid that had gradually enlarged over the previous year. Slit-lamp examination revealed dilation of the meibomian gland orifices and a whitish lesion measuring approximately 6 × 3 mm along the eyelid margin. The overlying eyelid skin was thinned, allowing the underlying mass to be partially visible. Under local anesthesia, three vertical incisions were made at the meibomian gland orifices, and multiple white concretions were removed. The concretions were found to be interconnected beneath the meibomian gland duct and were excised in fragments. Histopathological examination demonstrated degenerative material with prominent cholesterol clefts and minimal inflammatory cell infiltration, findings compatible with a concretion. Postoperatively, the eyelid contour improved and the patient's pain resolved.</p><p><strong>Conclusions: </strong>This case demonstrates a rare presentation of multiple interconnected concretions forming a clinically visible and palpable eyelid-margin mass. The combination of the clinical and operative findings, macroscopic appearance, and histopathological characteristics supported a diagnosis of meibomian gland concretion, although glandular or ductal tissue was not identified in the examined fragments.</p>","PeriodicalId":9603,"journal":{"name":"Case Reports in Ophthalmological Medicine","volume":"2026 ","pages":"5352956"},"PeriodicalIF":0.8,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13653143/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149164206","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
Favorable Outcome With Early Vitrectomy for Pseudomonas Endophthalmitis Following Elective Pars Plana Vitrectomy for Disabling Vitreous Opacities. 择期玻璃体切除术治疗致残性玻璃体混浊后,早期玻璃体切除术治疗假单胞菌眼内炎。
IF 0.8
Case Reports in Ophthalmological Medicine Pub Date : 2026-10-07 eCollection Date: 2026-01-01 DOI: 10.1155/crop/4008092
Roselind L Ni, Evelyn G Miller, Jonathan Perez, Allen Chiang, Michael A Klufas
{"title":"Favorable Outcome With Early Vitrectomy for Pseudomonas Endophthalmitis Following Elective Pars Plana Vitrectomy for Disabling Vitreous Opacities.","authors":"Roselind L Ni, Evelyn G Miller, Jonathan Perez, Allen Chiang, Michael A Klufas","doi":"10.1155/crop/4008092","DOIUrl":"10.1155/crop/4008092","url":null,"abstract":"<p><p>Postvitrectomy endophthalmitis is a rare but vision-threatening complication, with reported incidence rates below 0.15%, and treatment guidelines remain limited. Evidence guiding the timing of repeat vitrectomy in this setting is sparse, and the approach to management is derived largely from postcataract endophthalmitis. <i>Pseudomonas aeruginosa</i> endophthalmitis is associated with characteristically poor visual outcomes, often including enucleation. A 58-year-old man with a history of insulin-dependent diabetes and proliferative diabetic retinopathy presented with conjunctival injection, corneal edema, hypopyon, and vitritis 2 days after elective 25-gauge pars plana vitrectomy for vitreous opacities. His visual acuity had dropped from a preoperative baseline of 20/30 to hand motion. The patient was initially treated with vitreous tap and intravitreal injection of vancomycin and amikacin at initial presentation of endophthalmitis and admitted for hourly topical moxifloxacin and prednisolone acetate 1%. Re-evaluation after 12 h showed persistently decreased vision and inflammation, with B-scan ultrasonography showing active vitritis without retinal detachment. He was taken for repeat vitrectomy with intravitreal antibiotic injection within 24 h of presentation. Vitreous culture was positive for <i>Pseudomonas aeruginosa</i>, which was susceptible to the empiric aminoglycoside. The patient's vision improved to 20/200 at 2 weeks, then to his baseline of 20/30 by 1 year postoperatively, remaining stable through a 3-year follow-up period. Early repeat vitrectomy within 24 h of endophthalmitis presentation and prompt intravitreal antibiotic therapy for patients with postvitrectomy gram-negative endophthalmitis can be associated with favorable visual outcomes. Early patient presentation, concordant antibiotic treatment, and absence of severe complications, such as retinal detachment or occlusive vasculitis, may have contributed to excellent recovery to baseline vision.</p>","PeriodicalId":9603,"journal":{"name":"Case Reports in Ophthalmological Medicine","volume":"2026 ","pages":"4008092"},"PeriodicalIF":0.8,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13643358/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149135028","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
Capsule Retractor Extension Technique for Ectopia Lentis. 囊式牵开器扩展技术治疗晶状体异位。
IF 0.8
Case Reports in Ophthalmological Medicine Pub Date : 2026-10-05 eCollection Date: 2026-01-01 DOI: 10.1155/crop/4416608
Christopher Young-Jin Kim, Dooho Brian Kim
{"title":"Capsule Retractor Extension Technique for Ectopia Lentis.","authors":"Christopher Young-Jin Kim, Dooho Brian Kim","doi":"10.1155/crop/4416608","DOIUrl":"https://doi.org/10.1155/crop/4416608","url":null,"abstract":"<p><strong>Introduction: </strong>The surgical correction of ectopia lentis can range from routine to extremely challenging and largely depends on the extent of zonulopathy. When the lens-bag complex is more severe and inaccessible using standard techniques, the risk of complication increases.</p><p><strong>Case presentation: </strong>This is a single patient, bilateral and sequential surgical case report in which we describe a technique to improve access to the lens-bag complex when out of reach using standard surgical techniques. We describe a simple technique to extend the reach of a capsule retractor by stretching and extending the internal tip with microforceps to engage the capsulorhexis edge in the setting of ectopia lentis.</p><p><strong>Conclusion: </strong>The capsule retractor extension technique simplifies and bypasses the need for any additional instrumentation to improve centration of the lens-bag complex for phacoemulsification of the subluxated crystalline lens. It is a versatile surgical maneuver, which can be used to facilitate placement of the capsule retractor within the capsular bag in the setting of severe zonulopathy. The capsule retractor extension technique is important because it promotes preservation of the lens-bag complex and anterior hyaloid face, which reduces the risk of vitreoretinal complications.</p>","PeriodicalId":9603,"journal":{"name":"Case Reports in Ophthalmological Medicine","volume":"2026 ","pages":"4416608"},"PeriodicalIF":0.8,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13637083/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149104616","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
Sulcus Placement of PreserFlo Microshunt in Iridocorneal Endothelial Syndrome: A Case Report. PreserFlo微分流术治疗虹膜角膜内皮综合征1例。
IF 0.8
Case Reports in Ophthalmological Medicine Pub Date : 2026-09-30 eCollection Date: 2026-01-01 DOI: 10.1155/crop/7474280
Khizar Rana, Cindy Shi, Stephanie Stavrinakis, Soo Khai Ng
{"title":"Sulcus Placement of PreserFlo Microshunt in Iridocorneal Endothelial Syndrome: A Case Report.","authors":"Khizar Rana, Cindy Shi, Stephanie Stavrinakis, Soo Khai Ng","doi":"10.1155/crop/7474280","DOIUrl":"https://doi.org/10.1155/crop/7474280","url":null,"abstract":"<p><strong>Background: </strong>Secondary angle-closure glaucoma associated with iridocorneal endothelial (ICE) syndrome can be challenging to manage. This report presents a novel case of sulcus placement of a PreserFlo Microshunt in a patient with ICE syndrome following the failure of previous trabeculectomy and medical therapy.</p><p><strong>Case presentation: </strong>A 61-year-old patient with secondary angle-closure glaucoma due to ICE syndrome had uncontrolled intraocular pressures despite maximal medical therapy. They had a previous trabeculectomy, which failed following cataract surgery. Because of extensive peripheral anterior synechiae and risk of corneal decompensation, a PreserFlo Microshunt was placed in the sulcus. At the 18-month postoperative follow-up, intraocular pressure was well controlled without topical therapy.</p><p><strong>Conclusion: </strong>This is the first reported case of a PreserFlo Microshunt implanted in the sulcus in ICE syndrome. Sulcus placement provides a viable alternative in pseudophakic patients with extensive peripheral anterior synechiae, helping to mitigate the risk of corneal decompensation while effectively controlling intraocular pressure.</p>","PeriodicalId":9603,"journal":{"name":"Case Reports in Ophthalmological Medicine","volume":"2026 ","pages":"7474280"},"PeriodicalIF":0.8,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13624698/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149104659","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
Sodium Amide Eye Injury: Eye Injury After Sodium Amide Explosion. 钠酰胺眼损伤:钠酰胺爆炸后的眼损伤。
IF 0.8
Case Reports in Ophthalmological Medicine Pub Date : 2026-09-21 eCollection Date: 2026-01-01 DOI: 10.1155/crop/5017027
Gretchen Weiss, Cody Manzanero, Cameron McGlone, Brian R Quaranto, Ruth Marie Mattern
{"title":"Sodium Amide Eye Injury: Eye Injury After Sodium Amide Explosion.","authors":"Gretchen Weiss, Cody Manzanero, Cameron McGlone, Brian R Quaranto, Ruth Marie Mattern","doi":"10.1155/crop/5017027","DOIUrl":"10.1155/crop/5017027","url":null,"abstract":"<p><p>Alkaline chemical injuries are a common ocular trauma, with potentially devastating consequences. We report the initial 36-month course of healing of a 23-year-old male with bilateral partial chemical burns of the eyes from an industrial sodium amide explosion. To our knowledge, this is the first specific report of a case of ocular chemical injury with sodium amide. Persistent epithelial defects of cornea and conjunctiva, tissue melting, fibrovascular pannus, and symblepharon were consequences of this injury. Medical management, amniotic membrane application, and resection of fibrovascular tissue achieved limited control of the sequelae of the injury.</p>","PeriodicalId":9603,"journal":{"name":"Case Reports in Ophthalmological Medicine","volume":"2026 ","pages":"5017027"},"PeriodicalIF":0.8,"publicationDate":"2026-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13592139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149015817","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
Netarsudil-Induced Honeycomb Keratopathy in an Eye With Iridocorneal Endothelial Syndrome. 奈他地尔致虹膜角膜内皮综合征的蜂窝状角膜病变。
IF 0.8
Case Reports in Ophthalmological Medicine Pub Date : 2026-09-18 eCollection Date: 2026-01-01 DOI: 10.1155/crop/8615059
Alina N Ferguson, Karine Duarte Bojikian, Minh T Nguyen
{"title":"Netarsudil-Induced Honeycomb Keratopathy in an Eye With Iridocorneal Endothelial Syndrome.","authors":"Alina N Ferguson, Karine Duarte Bojikian, Minh T Nguyen","doi":"10.1155/crop/8615059","DOIUrl":"10.1155/crop/8615059","url":null,"abstract":"<p><strong>Purpose: </strong>To describe a case of netarsudil-associated honeycomb keratopathy in a patient with iridocorneal endothelial (ICE) syndrome.</p><p><strong>Observations: </strong>A 43-year-old male with a history of Cogan-Reese variant ICE syndrome presented with ocular irritation, foreign body sensation, blurred vision, photosensitivity, and discharge in the right eye 2 weeks after initiating topical netarsudil 0.02% for secondary angle-closure glaucoma. Slit lamp exam and anterior segment optical coherence tomography demonstrated diffuse reticular epithelial cysts, consistent with netarsudil-induced honeycomb keratopathy. Three weeks after netarsudil cessation, slit lamp exam showed complete resolution of corneal edema.</p><p><strong>Conclusions and importance: </strong>Endothelial cell dysfunction in ICE syndrome may be a risk factor for patients to develop reversible netarsudil-induced honeycomb keratopathy. Ophthalmologists should exercise caution when prescribing netarsudil for glaucoma management in patients with pre-existing corneal pathologies, including those with ICE syndrome.</p>","PeriodicalId":9603,"journal":{"name":"Case Reports in Ophthalmological Medicine","volume":"2026 ","pages":"8615059"},"PeriodicalIF":0.8,"publicationDate":"2026-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13589105/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149007873","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
Refractory Orbital Spindle Cell Carcinoma With Rapid Progression and Intracranial Extension. 难治性眼眶梭形细胞癌伴快速进展和颅内扩张。
IF 0.8
Case Reports in Ophthalmological Medicine Pub Date : 2026-09-16 eCollection Date: 2026-01-01 DOI: 10.1155/crop/9357403
Elizabeth A Bradley, Reza Nabie, Shadi Farabi Maleki
{"title":"Refractory Orbital Spindle Cell Carcinoma With Rapid Progression and Intracranial Extension.","authors":"Elizabeth A Bradley, Reza Nabie, Shadi Farabi Maleki","doi":"10.1155/crop/9357403","DOIUrl":"https://doi.org/10.1155/crop/9357403","url":null,"abstract":"<p><p>Spindle cell carcinoma, also known as carcinosarcoma or sarcomatoid carcinoma, is a rare and aggressive variant of squamous cell carcinoma known by biphasic malignant histology with epithelial and mesenchymal differentiation. We report the case of a 72-year-old male presenting with progressive unilateral proptosis, upper eyelid swelling, and restricted ocular motility. Imaging showed a well-defined mass infiltrating multiple orbital structures, histopathologically supporting orbital spindle cell carcinoma after ruling out other mimics. After surgical debulking, followed by chemotherapy and radiotherapy, the tumor showed aggressive invasion with local infiltration, bone destruction, and intracranial extension, which ultimately led to the patient's death. This case underscores detection and management challenges in the primary orbital spindle cell carcinoma. This tumor's aggressiveness and resistance to traditional treatment approaches reveal the need for further investigation into its etiology and better management techniques.</p>","PeriodicalId":9603,"journal":{"name":"Case Reports in Ophthalmological Medicine","volume":"2026 ","pages":"9357403"},"PeriodicalIF":0.8,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13580334/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148988164","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
Ophthalmic Manifestations in A Patient With Kabuki Syndrome: A Case Report With a KDM6A Gene Variant. 歌舞伎综合征患者的眼部表现:KDM6A基因变异病例报告。
IF 0.8
Case Reports in Ophthalmological Medicine Pub Date : 2026-09-15 eCollection Date: 2026-01-01 DOI: 10.1155/crop/1626256
Tülin Öğreden, Gülçiçek Cayhan
{"title":"Ophthalmic Manifestations in A Patient With Kabuki Syndrome: A Case Report With a KDM6A Gene Variant.","authors":"Tülin Öğreden, Gülçiçek Cayhan","doi":"10.1155/crop/1626256","DOIUrl":"https://doi.org/10.1155/crop/1626256","url":null,"abstract":"<p><p>Kabuki syndrome (KS) is a rare genetic disorder with a wide phenotypic spectrum and several genotypic variants. KS can result from mutations on Chromosome 12 (KMT2D gene) and Chromosome X (KDM6A gene). The KDM6A gene mutation is seen in approximately 2%-6% of Kabuki syndrome cases. In this case report, we present a patient with KS who had a rare and potentially pathogenic heterozygous c.3457dup (p.His153ProfsTer2) in the KDM6A gene from an ophthalmological perspective. Examination revealed distinctive facial features and some common and rare ophthalmological findings. A small number of cases have reported high myopic refractive error and optic disc hypoplasia, as in this case.</p>","PeriodicalId":9603,"journal":{"name":"Case Reports in Ophthalmological Medicine","volume":"2026 ","pages":"1626256"},"PeriodicalIF":0.8,"publicationDate":"2026-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13579099/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148988176","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
Bilateral Choroidal Neovascular Membranes in a Patient With a C1QTNF5 Mutation Managed With Long-Term Anti-VEGF Therapy and PRN Protocol: A Case Report. C1QTNF5突变患者的双侧脉络膜新生血管膜长期抗vegf治疗和PRN方案:一个病例报告。
IF 0.8
Case Reports in Ophthalmological Medicine Pub Date : 2026-09-15 eCollection Date: 2026-01-01 DOI: 10.1155/crop/6047720
Zishuai Chou, Celine Saade
{"title":"Bilateral Choroidal Neovascular Membranes in a Patient With a C1QTNF5 Mutation Managed With Long-Term Anti-VEGF Therapy and PRN Protocol: A Case Report.","authors":"Zishuai Chou, Celine Saade","doi":"10.1155/crop/6047720","DOIUrl":"10.1155/crop/6047720","url":null,"abstract":"<p><p>Choroidal neovascular membranes (CNVM) are abnormal vascular complexes that can cause serious visual morbidity if untreated. They can be induced by the C1QTNF5 mutation, which disrupts retinal pigment epithelium (RPE) adhesion and leads to progressive sub-RPE deposit accumulation. Due to its overlapping clinical presentation with age-related macular degeneration (AMD), C1QTNF5-associated CNVM is often misdiagnosed. Early recognition of atypical CNVM clinical presentations is essential to prompt genetic testing and initiate personalized antivascular endothelial growth factor (anti-VEGF) therapy. We report a 57-year-old male with a history of pontine stroke and strabismus surgery who presented with bilateral submacular hemorrhages and visual distortion. Given the atypical bilateral presentation and absence of drusen, genetic testing was performed. A pathogenic C1QTNF5 mutation with a p. Asn22Lys variant was identified. Treatment was initiated with intravitreal bevacizumab (IVA) injection and switched to aflibercept (IVE). After 2 years of tailored injection intervals based on optical coherence tomography (OCT) and visual acuity, the patient achieved visual acuity of 20/25 in both eyes with complete or near-complete resolution of subretinal fluid. A pro re nata (PRN) protocol was then initiated, and vision remained stable at the 4-year follow-up. This case highlights the importance of considering inherited retinal disease in atypical CNVM presentations. Early diagnosis, genetic testing, and individualized, imaging-driven anti-VEGF therapy can lead to long-term stability and favorable visual outcomes in patients with C1QTNF5-associated CNVM. Although causality cannot be established from a single case, concurrent glaucoma findings support the need for comprehensive ocular surveillance in patients with C1QTNF5 mutations.</p>","PeriodicalId":9603,"journal":{"name":"Case Reports in Ophthalmological Medicine","volume":"2026 ","pages":"6047720"},"PeriodicalIF":0.8,"publicationDate":"2026-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13575776/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148975832","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信
小红书