{
  "abstract": "Introduction Vacuoles, E1-ligase, X-linked Auto-inflammatory, Somatic (VEXAS) syndrome is a recently described multisystem inflammatory disorder. Ocular features are described, though not well known; we aimed to describe them.Methods This is a case series of VEXAS patients submitted by ophthalmologists from relevant specialty organisations, including the Australian and New Zealand Society of Ophthalmic Plastic Surgeons, British Oculoplastic Surgical Society and the Orbital Society. Patient consent was received.Results 14 males with VEXAS syndrome and eye features were included, median age 73 years (range 49–78). The associated UBA1 mutation was most commonly p.Met41Val (n=8, 57%), and most patients were Caucasian (n=11, 79%). All patients reported eyelid swelling (n=14, 100%); the next most frequent symptom was eye pain (n=10, 71%). Eye symptoms showed variable duration at presentation, most commonly 2–7 days (n=6, 43%). Eye involvement was typically bilateral (metachronous n=5, 36%, synchronous n=2, 14%). Overall, visual acuity was normal and did not change. Severe vision loss occurred unilaterally in two patients (14%), due to orbital compartment syndrome and periorbital necrotising fasciitis. Ophthalmologist-reported clinical features included periorbital oedema, present in all cases (n=14, 100%), followed by dacryoadenitis (n=8, 57%) and orbital myositis (n=7, 50%). There were no cases of posterior segment inflammation. Death due to complications of VEXAS occurred in one patient (7%).Conclusion Orbital inflammation was a feature in all cases of VEXAS with eye involvement, and severe loss of vision occurred unilaterally in 14%. Ocular complaints in VEXAS patients should prompt urgent ophthalmic assessment.",
  "authors": [
    {
      "affiliations": [
        "Department of Ophthalmology, Royal Adelaide Hospital, Adelaide, South Australia, Australia"
      ],
      "name": "Clare Quigley"
    },
    {
      "affiliations": [
        "The University of Queensland Faculty of Medicine, Herston, Queensland, Australia"
      ],
      "name": "James Pietris"
    },
    {
      "affiliations": [
        "Ophthalmology and Visual Sciences, The University of Adelaide School of Medicine, Adelaide, South Australia, Australia"
      ],
      "name": "Terence Ang"
    },
    {
      "affiliations": [
        "Research Excellence Center in Ophthalmology and Visual Sciences, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia",
        "King Saud University Medical City, Riyadh, Saudi Arabia"
      ],
      "name": "Abdullah Al Mater"
    },
    {
      "affiliations": [
        "Department of Clinical Immunology and Allergy, Royal Adelaide Hospital, Adelaide, South Australia, Australia"
      ],
      "name": "Mark Beecher"
    },
    {
      "affiliations": [
        "Division of Orbital and Ophthalmic Plastic Surgery, Jules Stein Eye Institute, Los Angeles, California, USA"
      ],
      "name": "Angela Oh"
    },
    {
      "affiliations": [
        "Ophthalmic Plastic and Reconstructive Division, Jules Stein Eye Institute, Los Angeles, California, USA"
      ],
      "name": "Daniel Benson Rootman"
    },
    {
      "affiliations": [
        "Christchurch Hospital, Christchurch, New Zealand"
      ],
      "name": "Nicholas James Theis"
    },
    {
      "affiliations": [
        "Christchurch Hospital, Christchurch, New Zealand"
      ],
      "name": "Robert Weatherhead"
    },
    {
      "affiliations": [
        "Department of Ophthalmology, Waikato Hospital, Hamilton, New Zealand"
      ],
      "name": "Reid Ferguson"
    },
    {
      "affiliations": [
        "Department of Ophthalmology, Waikato Hospital, Hamilton, New Zealand"
      ],
      "name": "Stephen Ng"
    },
    {
      "affiliations": [
        "Department of Ophthalmology, Waikato Hospital, Hamilton, New Zealand"
      ],
      "name": "Verona Botha"
    },
    {
      "affiliations": [
        "Department of Ophthalmology, Concord Repatriation General Hospital Australia, Sydney, Waikato, Australia",
        "Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia"
      ],
      "name": "Ru M Ong"
    },
    {
      "affiliations": [
        "Department of Ophthalmology, Concord Repatriation General Hospital Australia, Sydney, Waikato, Australia"
      ],
      "name": "Michael John Davies"
    },
    {
      "affiliations": [
        "Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia"
      ],
      "name": "Freny Kalapesi"
    },
    {
      "affiliations": [
        "Moorfields Eye Hospital NHS Foundation Trust, London, UK"
      ],
      "name": "Sarah F Osborne"
    },
    {
      "affiliations": [
        "Moorfields Eye Hospital NHS Foundation Trust, London, UK"
      ],
      "name": "Kaveh Vahdani"
    },
    {
      "affiliations": [
        "Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark",
        "Department of Ophthalmology, Rigshospitalet, Copenhagen, Capital Region of Denmark, Denmark"
      ],
      "name": "Marie Louise Roed Rasmussen"
    },
    {
      "affiliations": [
        "Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark",
        "Department of Ophthalmology, Rigshospitalet, Copenhagen, Capital Region of Denmark, Denmark"
      ],
      "name": "Steffen Heegaard"
    },
    {
      "affiliations": [
        "Ophthalmology, Oculoplastics and Orbital Surgery Unit, Ramón y Cajal Hospital, Madrid, Spain"
      ],
      "name": "Marco Sales-Sanz"
    },
    {
      "affiliations": [
        "Ophthalmology, Oculoplastics and Orbital Surgery Unit, Ramón y Cajal Hospital, Madrid, Spain"
      ],
      "name": "Andrés González-García"
    },
    {
      "affiliations": [
        "Ophthalmology, University of Queensland, Brisbane, Queensland, Australia"
      ],
      "name": "Timothy J Sullivan"
    },
    {
      "affiliations": [
        "Department of Ophthalmology, RBWH, Herston, Queensland, Australia"
      ],
      "name": "Delia D Wang"
    },
    {
      "affiliations": [
        "Department of Ophthalmology, Royal Adelaide Hospital, Adelaide, South Australia, Australia",
        "Ophthalmology and Visual Sciences, The University of Adelaide School of Medicine, Adelaide, South Australia, Australia"
      ],
      "name": "Dinesh Selva"
    }
  ],
  "title": "Orbital inflammation in VEXAS syndrome",
  "uid": "79add02d-a1db-50c5-8e2c-14f8ed2822d3"
}