Case Reports in Ophthalmology最新文献

{"title":"<i>IMPG1</i> Variant Causing Adult-Onset Foveomacular Vitelliform Dystrophy in Chinese: A Case Report.","authors":"Juexue Wang, Qian Wang","doi":"10.1159/000551709","DOIUrl":"10.1159/000551709","url":null,"abstract":"<p><strong>Introduction: </strong>Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a rare entity and is mostly reported in French individuals. Here, we report a Chinese patient with AOFVD who had <i>IMPG1</i> mutation and was misdiagnosed with age-related macular degeneration (AMD).</p><p><strong>Case presentation: </strong>A 59-year-old man complaining of vision loss was misdiagnosed with AMD and treated with intravitreal injections of anti-vascular endothelial growth factor, but with no improvement. Visual acuity was 20/50 in the right eye and 20/40 in the left eye. Fundus examinations revealed a bilateral symmetrical vitelliform \"egg yolk\" lesion. Spectral-domain optical coherence tomography revealed dome-shaped subretinal hyperreflective materials and cuticular drusen at the retinal pigment epithelium-Bruch's membrane complex in both eyes. No clear neovascularization was observed. Electrooculography revealed a decreased Arden ratio. Based on multimodal imaging analysis and genetic testing, the patient was diagnosed with AOFVD. No therapeutic intervention was administered. One month after the patient's visit, vitelliform \"egg yolk\" lesion was absorbed in the right eye, and the patient's visual acuity decreased to 20/100 in the right eye.</p><p><strong>Conclusion: </strong>AOFVD is rare and underdiagnosed. It can disguise as AMD or other similar macular diseases. Clinicians should be alert to this condition, pay attention to its identification, and avoid unnecessary treatments.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"17 1","pages":"448-454"},"PeriodicalIF":0.6,"publicationDate":"2026-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13229495/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148154902","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":"Expulsive Choroidal Hemorrhage during Femtosecond Laser-Assisted Cataract Surgery in a Patient with Acute Angle-Closure Glaucoma: A Case Report.","authors":"Li'ang Fu, Zhihe Fu","doi":"10.1159/000551608","DOIUrl":"10.1159/000551608","url":null,"abstract":"<p><strong>Introduction: </strong>We present a case that underscores the occurrence of expulsive choroidal hemorrhage (ECH) during the procedure of femtosecond laser-assisted cataract surgery (FLACS), emphasizing the imperative for surgeons to engage in a meticulous evaluation of the ECH risk associated with FLACS.</p><p><strong>Case presentation: </strong>A 73-year-old female patient, afflicted with cataract and acute angle-closure glaucoma, underwent FLACS. After an initial attempt at docking met with failure, the second endeavor proved successful. In the wake of the femtosecond laser surgery, a minor hemorrhage was discerned at the nasal anterior chamber angle. During the phacoemulsification, further hemorrhaging manifested at the nasal anterior chamber, accompanied by a sub-incisional iris that prolapsed from the main incision. A rupture of the posterior capsule ensued, precipitating the outflow of blood and vitreous from the vitreous cavity, thereby thwarting the planned implantation of the intraocular lens. Consequently, the patient underwent vitrectomy and external drainage of the sclera. Remarkably, her postoperative course unfolded without incident, culminating in an uneventful final result.</p><p><strong>Conclusions: </strong>This case suggests that performing FLACS during cataract surgery in patients with acute angle-closure glaucoma may lead to ECH. It is advisable to consider FLACS after sufficiently and adequately reducing intraocular pressure and eliminating intraocular inflammation only. Surgeons should more carefully assess the risks and benefits of using FLACS in similar cases and develop a management plan for potential ECH.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"17 1","pages":"441-447"},"PeriodicalIF":0.6,"publicationDate":"2026-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13221174/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148136738","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":"Progressive Visual Recovery in a Patient with Leber Hereditary Optic Neuropathy Harboring a Rare Heteroplasmic (MT-ND5):m.13042G>A, p(Ala236Thr) Variant with Low Mutant Load: A Case Report.","authors":"Tom Buelens, Audrey Meunier, Sara Seneca, François Willermain","doi":"10.1159/000551571","DOIUrl":"10.1159/000551571","url":null,"abstract":"<p><strong>Introduction: </strong>The majority of Caucasian patients with Leber hereditary optic neuropathy (LHON) harbor one of three primary pathogenic mitochondrial DNA (mtDNA) variants, which are usually present in homoplasmy in leukocytes. Most of the remaining cases have been linked to rare heteroplasmic pathogenic variants, which typically require a mutational load of more than 60% to result in phenotypic expression.</p><p><strong>Case presentation: </strong>An 18-year-old Caucasian man presented with sudden visual loss in the left eye. Eye examination revealed hyperemic optic discs with retinal vascular tortuosity and subtle peripapillary telangiectasia, reminiscent of LHON, but initial mtDNA analysis was negative. Best corrected visual acuity (BCVA) continued to decrease despite systemic corticotherapy and subsequent treatment with plasma exchange. The patient then experienced visual loss in the fellow eye, with BCVA in both eyes deteriorating to \"counting fingers\". Subsequent screening of complete mtDNA by massive parallel sequencing of leukocyte DNA identified a variant NC_012920.1(<i>MT-ND5</i>):m.13042G>A, p.(Ala236Thr), in heteroplasmy, with a variant load of around 23.8%. Progressive visual recovery was observed in both eyes, resulting in BCVA of 20/29 in both eyes after 4 years of follow-up.</p><p><strong>Conclusion: </strong>In patients with a strong clinical suspicion of LHON, complete mitochondrial genome sequencing should be considered when initial testing, typically limited to the three primary mutations, is negative. Furthermore, the diagnosis of LHON should not be dismissed if \"low\" blood mutant loads are found, as important discrepancies of heteroplasmy levels between different tissues have been reported for variants located in the mitochondrial <i>ND5</i> gene.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"17 1","pages":"423-432"},"PeriodicalIF":0.6,"publicationDate":"2026-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13200837/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148027315","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":"Erratum.","authors":"","doi":"10.1159/000551159","DOIUrl":"10.1159/000551159","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1159/000550116.].</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"17 1","pages":"238"},"PeriodicalIF":0.6,"publicationDate":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13002235/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147497713","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":"Erratum.","authors":"","doi":"10.1159/000551160","DOIUrl":"https://doi.org/10.1159/000551160","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1159/000550003.].</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"17 1","pages":"237"},"PeriodicalIF":0.6,"publicationDate":"2026-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12999192/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147484865","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":"Acquired Capillary Hemangioma of the Palpebral Conjunctiva in a Child with Vernal Keratoconjunctivitis: A Case Report and Pathogenetic Hypothesis.","authors":"Fawzia Alhaimi, Ramah Nazer, Anwar AlSuwailum","doi":"10.1159/000551404","DOIUrl":"10.1159/000551404","url":null,"abstract":"<p><strong>Introduction: </strong>Acquired capillary hemangioma of the conjunctiva is a rare benign vascular tumor, particularly in the pediatric population and when arising from the palpebral conjunctiva. Its clinical appearance often overlaps with reactive vascular lesions such as pyogenic granuloma, making accurate diagnosis challenging. Vernal keratoconjunctivitis (VKC) is a chronic allergic inflammatory disorder characterized by a pro-angiogenic microenvironment, which may contribute to vascular proliferation.</p><p><strong>Case presentation: </strong>An 8-year-old boy with a known history of VKC presented with a 1-year history of a painless, slowly enlarging reddish mass on the right upper palpebral conjunctiva. The lesion was refractory to intensive topical anti-inflammatory and immunomodulatory therapy. Surgical excision was therefore performed. Histopathological examination revealed a well-circumscribed lobular proliferation of thin-walled capillary-sized vessels separated by fibrous septa, with an eosinophil-rich inflammatory infiltrate. Immunohistochemical analysis demonstrated strong CD34 positivity, negative glucose transporter-1 staining, and a low Ki-67 proliferation index, confirming the diagnosis of an acquired capillary hemangioma. Postoperatively, the patient showed complete resolution with an excellent cosmetic and functional outcome.</p><p><strong>Conclusion: </strong>This case highlights a rare occurrence of acquired capillary hemangioma of the palpebral conjunctiva in a child with VKC. The findings suggest a possible association between chronic allergic inflammation and vascular tumor development. Histopathological and immunohistochemical evaluation is essential to distinguish this entity from reactive vascular lesions such as pyogenic granuloma.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"17 1","pages":"415-422"},"PeriodicalIF":0.6,"publicationDate":"2026-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13155749/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147866869","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":"Acute Retinal Necrosis with Choroidal Inflammation, Optic Perineuritis, and Early Retinal Detachment: A Case Report.","authors":"Sumayah H Banaji, Nora A Alyousif, Wael A Alsakran, Mustafa S Alhasan, Hanan A Alshalan","doi":"10.1159/000550708","DOIUrl":"10.1159/000550708","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of the study was to describe a rare presentation of acute retinal necrosis (ARN) in an immunocompetent adult, with choroidal, optic nerve, and orbital inflammation with exudative retinal detachment (ERD), complicated by early rhegmatogenous retinal detachment (RRD). This is a retrospective case report of atypical ARN. Clinical data, laboratory testing, and multimodal imaging were reviewed.</p><p><strong>Case presentation: </strong>Examination revealed right eye granulomatous panuveitis, including granulomatous anterior chamber inflammation, dense vitreous haze, and peripheral necrotizing hemorrhagic retinitis. Optical coherence tomography showed inner retinal hyperreflectivity, thickened choroid, and ERD. Magnetic resonance imaging confirmed inflammation of the optic nerve sheath and orbital tissues. Polymerase chain reaction (PCR) confirmed varicella-zoster virus infection. Left eye showed an old peripheral chorioretinal scar. The patient received systemic acyclovir, oral trimethoprim-sulfamethoxazole, along with systemic corticosteroids and intravitreal ganciclovir. Final resolution of ERD and improvement in orbital and intraocular inflammation were observed. The patient subsequently developed early RRD, managed by pars plana vitrectomy and silicone oil tamponade. Despite structural stabilization, visual recovery was limited due to late presentation, optic nerve, and choroidal involvement. Systemic investigations excluded alternative causes.</p><p><strong>Conclusion: </strong>ARN with concurrent panocular inflammation, choroidal, and optic nerve involvement is uncommon and may indicate a more aggressive disease course, often associated with poor visual prognosis. This case highlights that ARN with choroidal and optic nerve involvement may follow an aggressive course, requiring early PCR confirmation, intensive antiviral therapy, and timely surgical intervention to prevent severe visual loss.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"17 1","pages":"318-326"},"PeriodicalIF":0.6,"publicationDate":"2026-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13068389/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147670524","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":"Atypical Cogan's Syndrome Presenting as Anterior Scleritis: Case Report.","authors":"João Mendes, Francisco Mendes, Diogo Valente Fortunato, João Vasco Garrido, Rita Condesso, Augusto Candeias","doi":"10.1159/000551227","DOIUrl":"10.1159/000551227","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;Cogan's syndrome is a rare autoimmune vasculitis characterized by ocular inflammation and audiovestibular dysfunction, with the atypical form presenting with inflammatory ocular disease other than interstitial keratitis. Typical Cogan's syndrome manifests with interstitial keratitis and audiovestibular symptoms occurring within a 2-year interval, whereas atypical Cogan's syndrome involves inflammatory ocular disease without interstitial keratitis (such as scleritis, episcleritis, uveitis, or choroiditis), audiovestibular impairment, and systemic manifestations with delays longer than 2 years between different organ involvements. Atypical Cogan's syndrome usually presents with scleritis and choroiditis and is more frequently associated with systemic inflammation compared to typical forms, with approximately 70% of patients developing systemic manifestations. The diagnosis remains one of exclusion, requiring meticulous investigation to rule out infectious and other autoimmune etiologies, as no specific diagnostic criteria or biomarkers exist.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Case presentation: &lt;/strong&gt;A 40-year-old White female presented with recurrent episodes of ocular inflammation and sensorineural hearing loss over a 10-year period, initially treated as isolated conditions. She was evaluated for systemic autoimmune and infectious causes, all of which were excluded through serologic and imaging studies. Anterior scleritis was confirmed on ophthalmic examination with incomplete blanching on topical phenylephrine testing. Audiometry revealed bilateral sensorineural hearing loss. A diagnosis of atypical Cogan's syndrome was made based on clinical history and exclusion of other etiologies. High-dose oral corticosteroids (prednisolone 40 mg daily) led to initial improvement. However, the patient experienced disease flares following intolerance or inadequate response to several steroid-sparing agents, including methotrexate (discontinued due to alopecia after 3 months), azathioprine (150 mg daily for 6 months), and mycophenolate mofetil (3,000 mg daily for 6 months). A subconjunctival triamcinolone injection (40 mg) was administered during a relapse, and adalimumab (40 mg subcutaneously every 2 weeks) was subsequently initiated, resulting in clinical stability with no further ocular or auditory deterioration at 12-month follow-up. This therapeutic escalation represents an evidence-based approach for refractory disease, as infliximab has been shown to be the only significant predictor of vestibulo-auditory improvement in Cogan's syndrome, with other TNF-α antagonists including adalimumab demonstrating efficacy in case reports.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;Cogan's syndrome is a rare autoimmune vasculitis that can present with various ocular and auditory manifestations. While interstitial keratitis is classically described, anterior scleritis represents a less common but recognized presentation. This case underscores the importance ","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"17 1","pages":"371-379"},"PeriodicalIF":0.6,"publicationDate":"2026-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13105469/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147763499","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":"Erratum.","authors":"","doi":"10.1159/000550782","DOIUrl":"10.1159/000550782","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1159/000549864.].</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"17 1","pages":"187"},"PeriodicalIF":0.6,"publicationDate":"2026-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12965735/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147376165","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":"Benign Yellow Dot Maculopathy in a Palestinian Child: A Case Report.","authors":"Yahya Alswaiti, Othman Mustafa","doi":"10.1159/000551354","DOIUrl":"10.1159/000551354","url":null,"abstract":"<p><strong>Introduction: </strong>Benign yellow dot maculopathy (BYDM) is a recently recognized macular phenotype, first described in 2017. It may occur sporadically or follow a familial pattern. The condition is characterized by a rare, asymptomatic, early-onset, nonprogressive maculopathy, with multiple yellow dots at the macula and minimal or no functional impairment. Owing to its benign and frequently asymptomatic course, this condition is likely underdiagnosed and underreported.</p><p><strong>Case presentation: </strong>We report a 6-year-old Palestinian patient who was incidentally found to have bilateral, discrete yellow dots confined to the macular region, associated with reduced visual acuity. A comprehensive ophthalmic evaluation was performed. Multimodal imaging, including optical coherence tomography, demonstrated preserved retinal architecture, while electrophysiological testing showed normal global retinal function, supporting a benign, nonprogressive phenotype. Following careful exclusion of other inherited and acquired macular disorders, a diagnosis of BYDM was established.</p><p><strong>Conclusion: </strong>This report documents a case of BYDM in a Palestinian patient and contributes to the limited existing literature on this rare macular phenotype. To our knowledge, this is the first reported case from a Palestinian patient. Recognition of this entity is important to avoid misdiagnosis, unnecessary investigations, and patient anxiety.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"17 1","pages":"408-414"},"PeriodicalIF":0.6,"publicationDate":"2026-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13143270/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147834204","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}