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
{"title":"局限于眼科表现的rosah样综合征2例。","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":null,"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":"849-853"},"PeriodicalIF":2.6000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"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\":null,\"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\":\"849-853\"},\"PeriodicalIF\":2.6000,\"publicationDate\":\"2025-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Ocular Immunology and Inflammation\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/09273948.2025.2453873\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/23 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"OPHTHALMOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ocular Immunology and Inflammation","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/09273948.2025.2453873","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/23 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
Two Cases of ROSAH-Like Syndrome Restricted to the Ophthalmologic Presentation.
Purpose: 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.
Method: 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.
Results: 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 ALPK1 missense pathogenic variant c.710C>T; p.(Thr237Met) responsible for ROSAH syndrome.
Conclusion: ALPK1 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.
期刊介绍：
Ocular Immunology & Inflammation ranks 18 out of 59 in the Ophthalmology Category.Ocular Immunology and Inflammation is a peer-reviewed, scientific publication that welcomes the submission of original, previously unpublished manuscripts directed to ophthalmologists and vision scientists. Published bimonthly, the journal provides an international medium for basic and clinical research reports on the ocular inflammatory response and its control by the immune system. The journal publishes original research papers, case reports, reviews, letters to the editor, meeting abstracts, and invited editorials.
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