[Orbitopathy and bilateral posterior scleritis in VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome]

J Fr Ophtalmol. 2024 Sep;47(7):104151. doi: 10.1016/j.jfo.2024.104151. Epub 2024 Mar 19.

[Article in French]

Authors

G Niedochodowiez¹, A de Faria², M Marechal², J-M Cournac², C Ohlmann², S Bugier², A-M Legland², F Froussart²

Affiliations

¹ Service d'ophtalmologie, hôpital d'instruction des Armées Percy, 2, rue Lieutenant-Raoul-Batany, 92140 Clamart, France. Electronic address: [email protected].
² Service d'ophtalmologie, hôpital d'instruction des Armées Percy, 2, rue Lieutenant-Raoul-Batany, 92140 Clamart, France.

PMID: 38508894
DOI: 10.1016/j.jfo.2024.104151

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Genetic Diseases, X-Linked / complications
Genetic Diseases, X-Linked / diagnosis
Genetic Diseases, X-Linked / genetics
Hereditary Autoinflammatory Diseases / complications
Hereditary Autoinflammatory Diseases / diagnosis
Hereditary Autoinflammatory Diseases / genetics
Humans
Male
Orbital Diseases / complications
Orbital Diseases / diagnosis
Orbital Diseases / etiology
Scleritis* / diagnosis
Scleritis* / etiology
Syndrome
Ubiquitin-Activating Enzymes / genetics
Vacuoles / pathology

Substances

Ubiquitin-Activating Enzymes
UBA1 protein, human