{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T04:59:54Z","timestamp":1787979594894,"version":"build-2784847793"},"reference-count":24,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,12,15]]},"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:p>VEXAS (vacuoles, E1 enzyme, X linked, autoinflammatory, somatic) syndrome is a novel inflammatory syndrome that was first described in December 2020. Patients with VEXAS syndrome have a somatic mutation in the UBA1 gene, inflammatory conditions and usually haematological conditions. Haematological conditions reported in patients with VEXAS syndrome include myelodysplastic syndrome (MDS), clonal cytopenia of undetermined significance, plasma cell neoplasm including multiple myeloma\/monoclonal gammopathy of undetermined significance, haemophagocytic lymphohistiocytosis and monoclonal B-cell lymphocytosis. Here we describe a patient with VEXAS syndrome who had a progression of MDS to MDS\/myeloproliferative neoplasm overlap syndrome. The ocular findings so far reported in these patients include episcleritis, uveitis, blepharitis and orbital cellulitis. Here we report retinal detachment as a clinical feature of VEXAS syndrome. This finding has a significant implication in patient management as it warrants higher vigilance for this sight-threatening complication.<\/jats:p>","DOI":"10.1136\/bcr-2022-251089","type":"journal-article","created":{"date-parts":[[2022,12,22]],"date-time":"2022-12-22T10:00:53Z","timestamp":1671703253000},"page":"e251089","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":15,"title":["VEXAS syndrome with progression of MDS to MDS\/MPN overlap syndrome"],"prefix":"10.1136","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7950-5287","authenticated-orcid":false,"given":"Karun","family":"Neupane","sequence":"first","affiliation":[{"name":"Internal Medicine, Albert Einstein College of Medicine, Bronx, New York, USA"},{"name":"Internal Medicine, Jacobi Medical Center, Bronx, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9692-7841","authenticated-orcid":false,"given":"Apoorva","family":"Jayarangaiah","sequence":"additional","affiliation":[{"name":"Department of Hematology and Oncology, Jacobi Medical Center, Bronx, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pathology, Jacobi Medical Center, Bronx, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abishek","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Hematology and Oncology, Jacobi Medical Center, Bronx, New York, 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