Ocular Immunology and Inflammation最新文献

{"title":"Ocular Syphilis - Clinical Features and Outcome in HIV Positive and HIV Negative Patients from a Tertiary Eye Center from India - A Comparative Study.","authors":"Arshee S Ahmed, Nair Nivedita, Sridharan Sudharshan, Anitha Manoharan, Appakkudal R Anand, Poongulali Selvamuthu, Jyotirmay Biswas","doi":"10.1080/09273948.2024.2382347","DOIUrl":"10.1080/09273948.2024.2382347","url":null,"abstract":"<p><strong>Purpose: </strong>To study and compare the clinical characteristics and outcome of ocular syphilis between HIV positive and HIV negative patients.</p><p><strong>Methods: </strong>Retrospective hospital-based case series from a tertiary eye care hospital in India. Patients with uveitis and positive syphilis serology were included. Demographics, clinical features, investigations, imaging and treatment modalities were noted.</p><p><strong>Results: </strong>Hundred and five (105) eyes of 66 patients were analyzed. Males were predominantly affected (<i>n</i> = 57/66, 86.4%). Secondary syphilis was the most common stage of presentation (<i>n</i> = 48/66, 72.7%). Two groups were identified: HIV positive (HIVP) patients (<i>n</i> = 39/66, 59%) and HIV negative (HIVN) patients (<i>n</i> = 27/66, 41%). 12/39 (30.8%) patients were newly diagnosed with HIV at the time of ocular presentation. Panuveitis was the most common presenting feature in both groups (<i>n</i> = 66/105 eyes, 62.8%). Diffuse necrotizing retinitis was more common in HIV patients (HIVP - 15 Vs HIVN - 5 eyes). Ocular co-infections were more common in HIV patients, ocular tuberculosis, the commonest in both groups. Intravenous penicillin and titrated dose of systemic steroids were the mainstay of treatment. Improvement in mean logMAR was noted from 1.415 to 0.828 with <i>p</i>-value < 0.001. At final follow-up, 71.8% patients showed visual improvement. Complete resolution of ocular inflammation was noted in 95.5% patients.</p><p><strong>Conclusion: </strong>Ocular syphilis poses a diagnostic challenge considering the varied presentations and clinical course both in immunocompromised and immunocompetent groups. Clinical presentations are not always classical. High index of suspicion with supportive laboratory investigations and with characteristic OCT features helps diagnosis. All uveitis patients, especially with those suspected with infectious etiology, need to be tested for syphilis serology to prevent vision loss in this resurgent disease.</p>","PeriodicalId":19406,"journal":{"name":"Ocular Immunology and Inflammation","volume":" ","pages":"235-242"},"PeriodicalIF":2.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141982885","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Seroreversion in HIV-Associated Bilateral CMV Retinitis: A Challenging Case Report.","authors":"Radhika Sriram, Padmamalini Mahendradas, Prathiba Hande, Aditya Patil, Ankush Kawali, Sai Bhakti Mishra, Sara Rizvi, Rohit Shetty","doi":"10.1080/09273948.2024.2385606","DOIUrl":"10.1080/09273948.2024.2385606","url":null,"abstract":"<p><strong>Purpose: </strong>To report a case of seroreversion in a patient with HIV-associated bilateral CMV retinitis and the challenges associated with detection of this phenomenon in late stages of HIV.</p><p><strong>Method: </strong>Retrospective single case report.</p><p><strong>Results: </strong>The clinical picture of the patient on presentation was suggestive of viral retinitis. PCR confirmed a diagnosis of CMV retinitis. Serology for HIV-1 & 2 was negative. A viral load of HIV and CD-4 count confirmed his sero status to be positive for HIV. Improvement in visual acuity and slow resolution of the lesion was noted with both anti-viral for CMV and HIV. A repeat HIV-1 testing was positive with an improvement in CD4 count.</p><p><strong>Conclusion: </strong>In highly suspicious individual, with a negative serology (post screening test) for HIV, the disease status should be confirmed by testing the individual for HIV viral load and CD4 count.</p>","PeriodicalId":19406,"journal":{"name":"Ocular Immunology and Inflammation","volume":" ","pages":"303-307"},"PeriodicalIF":2.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141907249","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Severe Occlusive Retinal Vasculitis in an Immunocompetent Patient with Chronic CMV Anterior Uveitis.","authors":"Marko Chi-Wei Tien, Alexander J Kaplan","doi":"10.1080/09273948.2024.2389460","DOIUrl":"10.1080/09273948.2024.2389460","url":null,"abstract":"<p><strong>Purpose: </strong>We report a unique case of non-necrotizing occlusive retinal vasculitis presenting two years following chronic hypertensive uveitis.</p><p><strong>Methods: </strong>Case Report.</p><p><strong>Results: </strong>A 32-year-old Iraqi woman with a history of Posner-Schlossman Syndrome diagnosed 10 years prior presented with blurred vision and redness in her left eye. Examination demonstrated ocular hypertension, keratic precipitates, and inflammatory cells in the anterior chamber. Quantitative real-time PCR confirmed the presence of cytomegalovirus in the aqueous humor, and dilated posterior segment examination was negative for any signs of intraocular inflammation, retinitis, or vasculitis. Her uveitis workup was otherwise negative, and she was treated with valganciclovir for 6 months. Two years after her initial presentation, she was noted to have a new vitreous hemorrhage in the left eye. Fluorescein angiography demonstrated an occlusive retinal vasculitis with extensive neovascularization without retinitis. Quantitative real-time PCR again demonstrated the presence of cytomegalovirus in the anterior chamber. Her uveitis workup was repeated, which has now returned positive for HLA-B51. She otherwise did not demonstrate any systemic signs of Behcet's Disease. She was restarted on valganciclovir and oral prednisone and referred to rheumatology for consideration of adalimumab initiation. Thus far she has responded very well to treatment.</p><p><strong>Conclusion: </strong>This case highlights the importance of serial posterior segment examinations and HLA-B51 testing in individuals with cytomegalovirus anterior uveitis.</p>","PeriodicalId":19406,"journal":{"name":"Ocular Immunology and Inflammation","volume":" ","pages":"308-309"},"PeriodicalIF":2.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141907250","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corneal Perforation Associated with Pembrolizumab - A Case Report with Literature Review.","authors":"Dharshini Balasubaramaniam, Lim Yi Wen, Nurul Najieha Amir, Sujaya Singh","doi":"10.1080/09273948.2025.2456647","DOIUrl":"https://doi.org/10.1080/09273948.2025.2456647","url":null,"abstract":"<p><strong>Purpose: </strong>To shed light on one of the ocular adverse effects related to pembrolizumab.</p><p><strong>Method: </strong>Case report and literature review.</p><p><strong>Result: </strong>A 53-year-old gentleman with underlying Stage III B renal cell carcinoma with lung metastasis and gout presented in June 2021 with bilateral red eyes following Coronavirus disease (COVID-19) vaccination. He had undergone a nephrectomy for renal cell carcinoma and was on Pembrolizumab therapy for 5 years. Examination showed right eye injected conjunctiva with diffuse punctate epithelial erosions over the cornea, which was treated with topical steroids. The left eye is suspected to have infective keratitis, which is treated with topical antibiotics and subsequently steroids for the ocular surface inflammation. However, he developed a left eye paracentral sterile corneal melt which rapidly progressed to perforation measuring 1 mm in size. The perforation was temporarily sealed with tissue glue, but he eventually required a full thickness corneal patch graft. Patient has been doing well post-operatively for the last 3 years.</p><p><strong>Conclusion: </strong>The diagnosis and management of irAEs are challenging and necessitate continuously updated diagnostic and monitoring tools. As checkpoint inhibitors become more promising in the management of malignancies, it is crucial for both the oncologist and ophthalmologist to be aware of the potential ocular adverse effects of these drugs.</p>","PeriodicalId":19406,"journal":{"name":"Ocular Immunology and Inflammation","volume":" ","pages":"1-3"},"PeriodicalIF":2.6,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143066967","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case of AQP4-IgG Neuromyelitis Optica Presenting with Orbital Inflammatory Syndrome.","authors":"Lucy A Bailey, Roy F Riascos, Ore-Ofe O Adesina","doi":"10.1080/09273948.2022.2075762","DOIUrl":"https://doi.org/10.1080/09273948.2022.2075762","url":null,"abstract":"<p><p>A 45-year-old healthy African-American man experienced 2 months of right-eye soreness followed by acute onset of right painful vision loss with binocular, oblique diplopia. Visual acuity was count fingers OD and 20/20 OS. He had a partial, right, pupil-involving cranial nerve III palsy with a right relative afferent pupillary defect and optic disc edema with tortuous vessels. Magnetic resonance imaging showed increased T2 signal with tortuosity and thickening of the retrobulbar right optic nerve with associated restricted diffusion and enhancement, enhancement of orbital fat adjacent to the optic nerve sheath, and relative right proptosis. Workup was positive for aquaporin-4 antibody (AQP4-IgG) consistent with neuromyelitis optica spectrum disease (NMOSD). Our patient presented with signs and symptoms of orbital inflammation with optic neuritis and, to our knowledge, this is the first reported case of AQP4-IgG NMOSD presenting with orbital inflammatory syndrome.</p>","PeriodicalId":19406,"journal":{"name":"Ocular Immunology and Inflammation","volume":" ","pages":"1-3"},"PeriodicalIF":2.6,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143066956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bilateral Choroidal Metastases from Primary Cutaneous Melanoma Following Nivolumab Discontinuation: A Case Report.","authors":"Fabio Daniel Padilla-Pantoja, Fernando Godin, Fernando Rojas-Rojas, Jennifer Camargo-González, David Ancona-Lezama","doi":"10.1080/09273948.2025.2456646","DOIUrl":"https://doi.org/10.1080/09273948.2025.2456646","url":null,"abstract":"<p><strong>Purpose: </strong>To present the case of a young patient with BRAF V600E-mutant cutaneous melanoma who developed bilateral choroidal metastases complicated by neovascular glaucoma (NVG) in both eyes following the interruption of nivolumab therapy.</p><p><strong>Methods: </strong>A 28-year-old female with primary cutaneous melanoma of the left hand underwent surgical resection and adjuvant nivolumab. Immunotherapy was discontinued due to immune-related acute interstitial nephritis. Three months after cessation, she presented with bilateral decreased vision, pain, and redness.</p><p><strong>Results: </strong>Ophthalmic examination and imaging revealed bilateral choroidal thickening with focal nodular lesions consistent with metastatic disease, along with uveitis and NVG in both eyes. This condition required topical anti-inflammatory treatment and cyclophotocoagulation for intraocular pressure (IOP) control. Nivolumab was reinitiated in combination with systemic corticosteroids to manage immune-related toxicity. At the 12-month follow-up, the patient retained visual function in one eye, with no signs of new metastatic lesions.</p><p><strong>Conclusions: </strong>Bilateral choroidal metastases from cutaneous melanoma are rare and can be complicated by NVG. Interruption of immune checkpoint inhibitors (ICIs) like nivolumab may lead to metastatic recurrence. Prompt resumption of immunotherapy, coupled with appropriate ocular interventions, is crucial for controlling disease progression and preserving vision. Careful management of immune-related adverse effects (irAEs) is essential to prevent treatment discontinuation and subsequent disease relapse.</p>","PeriodicalId":19406,"journal":{"name":"Ocular Immunology and Inflammation","volume":" ","pages":"1-4"},"PeriodicalIF":2.6,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143040143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Changes in Axial Length in Patients of Acute Retinal Necrosis Undergoing Vitrectomy.","authors":"Boya Lei, Yao Zhou, Xinyi Ding, Ruiping Gu, Qinmeng Shu, Min Wang, Qing Chang, Gezhi Xu, Min Zhou, Rui Jiang","doi":"10.1080/09273948.2025.2455960","DOIUrl":"https://doi.org/10.1080/09273948.2025.2455960","url":null,"abstract":"<p><strong>Purpose: </strong>To observe the changes in the axial length (AL) in patients of acute retinal necrosis (ARN) undergoing vitrectomy and investigate the correlated factors.</p><p><strong>Methods: </strong>Retrospective case series. Patients diagnosed as ARN undergoing vitrectomy with silicone oil (SO) tamponade, and with attached retina more than one year after silicone oil removal (SOR) were included. Medical records and AL measured by Zeiss IOLMaster 700 were reviewed before vitrectomy, before SOR, and one year after SOR. Residual retinal index, a parameter reflecting the residual retinal area after vitrectomy was analyzed based on the ultra-wide-field fundus imaging. The AL change (ΔAL) was calculated and clinical factors related to ΔAL were investigated.</p><p><strong>Results: </strong>In total, 45 eyes from 45 patients were included. The AL at pre-vitrectomy and pre-SOR was 23.84 ± 1.45 and 23.53 ± 1.53 mm among all 45 eyes, with a ΔAL of 0.31 ± 0.62 mm (<i>p</i> < 0.001). Among the 22 eyes with AL measured at one year after SOR, the AL at pre-SOR and one-year post-SOR was 23.82 ± 1.60 and 23.16 ± 0.79 mm, with a ΔAL of 0.67 ± 1.58 mm (<i>p</i> < 0.001). After excluding highly myopic eyes, the ΔAL was 0.31 ± 0.59 mm (<i>n</i> = 42, <i>p</i> < 0.001) between pre-vitrectomy and pre-SOR, and 0.22 ± 0.32 mm (<i>n</i> = 20, <i>p</i> = 0.001) between pre-SOR and one-year post-SOR. Multivariable regression analysis revealed the variable that remained independently associated with ΔAL between pre-SOR and one-year post-SOR was the residual retinal index (β = -0.568, <i>p</i> = 0.006).</p><p><strong>Conclusion: </strong>For ARN patients undergoing vitrectomy, AL decreased significantly both post-vitrectomy and post-SOR. The refractive shift should be considered before intraocular lens implantation.</p>","PeriodicalId":19406,"journal":{"name":"Ocular Immunology and Inflammation","volume":" ","pages":"1-7"},"PeriodicalIF":2.6,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and Imaging Characteristics of Posterior Scleritis in Children.","authors":"Ayala Katzir, Radgonde Amer","doi":"10.1080/09273948.2025.2455963","DOIUrl":"https://doi.org/10.1080/09273948.2025.2455963","url":null,"abstract":"<p><strong>Background: </strong>Posterior scleritis (PS) is a rare phenotype of scleritis. Comprehensive epidemiological studies on PS in children are limited. We aimed to report on its clinical and imaging features in one of the largest pediatric series to date.</p><p><strong>Methods: </strong>Retrospective review of medical files.</p><p><strong>Results: </strong>Included were 12 children (7 girls, mean±SD age at diagnosis 13.75 ± 3.3 years,18 eyes, mean follow-up ±SD of 46.7 ± 45.9 months). All patients presented with eye pain followed by headache. Papillitis was the most common presenting sign (16 eyes, 88.9%). Seven patients (58%) showed laboratory markers of systemic inflammation. One patient had periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA). In 2 other patients, Behҫet disease and inflammatory bowel disease were diagnosed subsequently. Initial echography showed increased posterior scleral thickness (mean±SD 2.9 ± 0.68 mm) with a significant reduction four ± 2 months later (mean±SD 1.85 ± 0.62 mm). Retinal nerve fiber layer (RNFL) was thickened in all examined eyes (mean±SD 136.2 ± 28.4 µm) at presentation and it significantly decreased with treatment (109.8 ± 8.2 µm two months later). In 5 patients (42%), diagnosing PS was prompted by Brain imaging. PS was part of orbital inflammatory syndrome in 4 patients (33.3%). All patients were treated with systemic steroids and 91% required steroid-sparing agent. Adalimumab was added in 2 patients. A chronic course was observed in 63.6%. Remission was achieved in 4 patients. Mean±SD presenting LogMAR VA was 0.23 ± 0.3 with marked improvement to 0.04 ± 0.07 one month later.</p><p><strong>Conclusion: </strong>Searching for an associated autoinflammatory/autoimmune disease is an important step in patients' triaging. B-scan ultrasound remains the gold standard test. OCT proved to be of practical importance in delineating the magnitude of RNFL thickness and could serve as a potential imaging biomarker of disease activity.</p>","PeriodicalId":19406,"journal":{"name":"Ocular Immunology and Inflammation","volume":" ","pages":"1-8"},"PeriodicalIF":2.6,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143024162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multicenter Analysis of Acute Retinal Necrosis: Clinical Characteristics, Viral Pathogens, and Diagnostic Predictive Factors.","authors":"Panuwat Soitong, Yaninsiri Ngathaweesuk, Noppakhun Panyayingyong, Atchara Amphornphruet, Variya Nganthavee, Boonsub Sakboonyarat, Narumon Keorochana","doi":"10.1080/09273948.2025.2456642","DOIUrl":"https://doi.org/10.1080/09273948.2025.2456642","url":null,"abstract":"<p><strong>Purpose: </strong>This multicenter study aimed to investigate the clinical characteristics and factors associated with specific viral pathogens in patients with acute retinal necrosis (ARN).</p><p><strong>Methods: </strong>A retrospective multicenter cohort study included ARN patients who underwent aqueous or vitreous polymerase chain reaction (PCR) testing. Multivariable mixed-effects Poisson regression was used to identify factors associated with viral pathogens.</p><p><strong>Results: </strong>A total of 56 patients (65 eyes) with ARN were included, with a mean age was 39.9 ± 23.2 years. Anterior chamber cell showed significant inflammation in 89.2%, while vitreous haze was present in 100%. Multifocal retinitis was found in 92.3% of cases. Among these, 49.2% had diffuse or confluent patterns, 15.4% were circumferential, and 23.1% showed satellite lesions. Additionally, 18.5% were ameboid or scalloped shape, while 9.2% had wedge shapes. Varicella zoster virus (VZV) was the most common pathogen (30.8%), followed by Herpes simplex virus (HSV) (13.8%), Cytomegalovirus (CMV) (10.8%), Epstein-Barr virus (EBV) (9.2%), and human herpesvirus (HHV) (3.0%). Co-infections were observed in 20% of eyes. CMV-related ARN was significantly associated with wedge-shaped retinitis (aRR 4.19) and immunocompromised host (aRR 8.8). Younger age and optic disc edema (aRR 5.41) were correlated with HSV-related ARN.</p><p><strong>Conclusion: </strong>VZV was the predominant viral pathogen, with the increasing prevalence of CMV, EBV, and co-infection. Wedge-shaped retinitis and immunocompromised status were notably associated with CMV-related ARN, findings that may guide antiviral therapy decisions in settings where PCR diagnostics are either unavailable or delayed, ultimately improving visual outcomes.</p>","PeriodicalId":19406,"journal":{"name":"Ocular Immunology and Inflammation","volume":" ","pages":"1-8"},"PeriodicalIF":2.6,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143024163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Two Cases of ROSAH-Like Syndrome Restricted to the Ophthalmologic Presentation.","authors":"Laurie Mourozeau, Virginie Pichon, Aymane Bouzidi, Majida Charif, Marine Tessarech, Angélique Caignard, Patrizia Amati-Bonneau, Agnès Guichet, Christian Lavigne, Christophe Verny, Philippe Gohier, Guy Lenaers","doi":"10.1080/09273948.2025.2453873","DOIUrl":"https://doi.org/10.1080/09273948.2025.2453873","url":null,"abstract":"<p><strong>Purpose: </strong>To report the clinical presentation and follow-up, including the optical coherence tomography, angiography and electrophysiology of two individuals from the same family presenting with an isolated retinal dystrophy and optic nerve edema who were diagnosed with ROSAH-like syndrome.</p><p><strong>Method: </strong>Observational case report of a 55-year-old woman and her 36-year-old son with a genetic analysis of ROSAH, after a long-term follow-up.</p><p><strong>Results: </strong>Both the mother and her son displayed severe optic nerve infiltration and retinal pigment atrophy with intraocular inflammation, which were not improved by immunosuppressive treatment. Systemic investigations were not relevant of a syndromic presentation. Whole exome sequencing revealed the same <i>ALPK1</i> missense pathogenic variant c.710C>T; p.(Thr237Met) responsible for ROSAH syndrome.</p><p><strong>Conclusion: </strong><i>ALPK1</i> variant responsible for ROSAH syndrome may cause severe retinal dystrophy and an uveitis-like presentation resistant to conventional immunosuppressive drugs, without the systemic symptoms common to the ROSAH syndrome.</p>","PeriodicalId":19406,"journal":{"name":"Ocular Immunology and Inflammation","volume":" ","pages":"1-5"},"PeriodicalIF":2.6,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143024164","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}