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Paediatric Rheumatology

 

Ocular involvement in adult and paediatric patients with monogenic autoinflammatory diseases: a Spanish multicentre retrospective study

1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30

 

  1. Department of Ophthalmology, BioCruces Bizkaia Health Research Institute, Cruces University Hospital, University of the Basque Country, Barakaldo; Instituto Oftalmológico Bilbao, and Cooperative Health Network for Research in Ophthalmology (Oftared), National Institute of Health Carlos III, ISCIII, Madrid, Spain. afonollosacalduch@gmail.com
  2. Department of Ophthalmology, Institut Clínic d’Oftalmologia (ICOF), Hospital Clinic de Barcelona, University of Barcelona, Institut de Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
  3. Autoimmune and Rare Diseases Unit, Department of Internal Medicine, Hospital Virgen del Rocío, Center of the Centros, Servicios y Unidades de Referencia (CSUR) in Autoinflammatory Diseases, Sevilla, Spain.
  4. Autoinflammatory Diseases Unit, Internal Medicine Department, Hospital Universitari Vall d’Hebron, Center of the European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA), Spanish Center of the Centros, Servicios y Unidades de Referencia (CSUR) and Catalan Center of the Xarxa d’Unitats d’Expertesa Clínica (XUEC) for Autoinflammatory Diseases, Barcelona, Spain.
  5. Department of Ophthalmology, Hospital Vall d'Hebron, Barcelona, Spain.
  6. Systemic Autoimmune Diseases Unit, Department of Internal Medicine, Hospital Universitario La Paz, Madrid, Spain.
  7. Department of Internal Medicine, Hospital do Meixoeiro-Chuvi, Rare Diseases and Paediatric Medicine Group, Galicia Sur Health Research Institute (IIS Galicia Sur), Vigo, Pontevedra, Spain.
  8. Department of Internal Medicine, Autoimmune and Rare Diseases Unit, Hospital Universitario Ramón y Cajal, Universidad de Alcalá de Henares, IRYCIS, Madrid, Spain.
  9. Division of Rheumatology, Hospital de Toledo, Spain.
  10. Systemic Autoimmune Diseases Unit, Department of Internal Medicine, Hospital Universitario San Cecilio, University of Granada, Spain.
  11. Department of Ophthalmology, Institut Clínic d’Oftalmologia (ICOF), Hospital Clinic de Barcelona, University of Barcelona, Institut de Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
  12. Department of Ophthalmology, Institut Clínic d’Oftalmologia (ICOF), Hospital Clinic de Barcelona, University of Barcelona, Institut de Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
  13. Paediatric Rheumatology Unit, BioCruces Bizkaia Health Research Institute, Cruces University Hospital, University of the Basque Country, Barakaldo, Spain.
  14. Department of Internal Medicine, Complejo Hospitalario Universitario de Santiago, University of Santiago de Compostela, Spain.
  15. Department of Ophthalmology, Hospital Clínico Universitario de Valladolid, Institute of Applied OphthalmoBiology (IOBA), University of Valladolid, Spain.
  16. Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, Madrid, Spain.
  17. Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, Rheumatology Division, Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander, Spain.
  18. Division of Paediatric Rheumatology, Paediatric Immune Dysfunction Disease Study Group (GEMDIP), Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Center of the European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA), Spanish Center of the Centros, Servicios y Unidades de Referencia (CSUR) and Catalan Center of the Xarxa d’Unitats d’Expertesa Clínica (XUEC) for Autoinflammatory Diseases, Esplugues de Llobregat, Barcelona, Spain.
  19. Autoimmune and Rare Diseases Unit, Department of Internal Medicine, Hospital Virgen del Rocío, Center of the Centros, Servicios y Unidades de Referencia (CSUR) in Autoinflammatory Diseases, Sevilla, Spain.
  20. Autoinflammatory Diseases Unit, Internal Medicine Department, Hospital Universitari Vall d’Hebron, Center of the European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA), Spanish Center of the Centros, Servicios y Unidades de Referencia (CSUR) and Catalan Center of the Xarxa d’Unitats d’Expertesa Clínica (XUEC) for Autoinflammatory Diseases, Barcelona, Spain.
  21. Department of Ophthalmology, BioCruces Bizkaia Health Research Institute, Cruces University Hospital, University of the Basque Country, Barakaldo, Spain.
  22. Autoimmune Diseases Research Unit, Department of Internal Medicine, Biocruces Health Research Institute, Hospital Universitario Cruces, University of the Basque Country, Barakaldo, Spain.
  23. Autoimmune Diseases Research Unit, Department of Internal Medicine, Biocruces Health Research Institute, Hospital Universitario Cruces, University of the Basque Country, Barakaldo, Spain.
  24. Autoinflammatory Diseases Clin Unit & Vasculitis Research Unit, Dept of Autoimmune Diseases, Hosp Clínic Barcelona, Univ of Barcelona, Inst d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Center of the European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA), Spanish Center of the Centros, Servicios y Unidades de Referencia (CSUR) and Catalan Center of the Xarxa d’Unitats d’Expertesa Clínica(XUEC) for Autoinflammatory Diseases, Barcelona, Spain.
  25. Autoinflammatory Diseases Clin Unit & Vasculitis Research Unit, Dept of Autoimmune Diseases, Hosp Clínic Barcelona, Univ of Barcelona, Inst d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Center of the European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA), Spanish Center of the Centros, Servicios y Unidades de Referencia (CSUR) and Catalan Center of the Xarxa d’Unitats d’Expertesa Clínica(XUEC) for Autoinflammatory Diseases, Barcelona, Spain.
  26. Autoinflammatory Diseases Clin Unit & Vasculitis Research Unit, Dept of Autoimmune Diseases, Hosp Clínic Barcelona, Univ of Barcelona, Inst d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Center of the European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA), Spanish Center of the Centros, Servicios y Unidades de Referencia (CSUR) and Catalan Center of the Xarxa d’Unitats d’Expertesa Clínica(XUEC) for Autoinflammatory Diseases, Barcelona, Spain.
  27. Department of Ophthalmology, Institut Clínic d’Oftalmologia (ICOF), Hospital Clinic de Barcelona, University of Barcelona, Institut de Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
  28. Ophthalmology Unit, Department of Medicine, Surgery and Neurosciences, University of Siena, Center of the European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA), Siena, Italy.
  29. Research Center of Systemic Autoinflammatory Diseases and Behçet’s Disease Clinic, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Center of the European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA), Siena, Italy.
  30. Autoinflammatory Diseases Clin Unit & Vasculitis Research Unit, Dept of Autoimmune Diseases, Hosp Clínic Barcelona, Univ of Barcelona, Inst d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Center of the European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA), Spanish Center of the Centros, Servicios y Unidades de Referencia (CSUR) and Catalan Center of the Xarxa d’Unitats d’Expertesa Clínica(XUEC) for Autoinflammatory Diseases, Barcelona, Spain.

on behalf of the Spanish Society of Ocular Inflammation (SEIOC) and the AutoInflammatory Diseases Alliance (AIDA) Network

CER16812
2023 Vol.41, N°10
PI 2105, PF 2114
Paediatric Rheumatology

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PMID: 37812477 [PubMed]

Received: 07/05/2023
Accepted : 06/09/2023
In Press: 28/09/2023
Published: 30/10/2023

Abstract

OBJECTIVES:
Ophthalmologic involvement in monogenic autoinflammatory diseases has been explored mainly in paediatric patients. The aim of this study is to characterise ophthalmologic manifestations, therapeutic management and visual outcomes in a Spanish (UVESAI) cohort of adult/paediatric patients with monogenic autoinflammatory diseases.
METHODS:
Multicentre and retrospective study of patients with monogenic autoinflammatory diseases and ocular involvement. Eye manifestations, structural complications, treatments used and visual outcomes were analysed, and compared with previous studies.
RESULTS:
Forty-six patients (44/2 adults/children; 21/25 adult/paediatric-onset) with monogenic autoinflammatory diseases [cryopyrin associated periodic syndromes (n=13/28.3%), mainly Muckle-Wells syndrome (MWS) (n=11/24%); familial Mediterranean fever (FMF) (n=12/26%); TNF receptor-associated periodic syndrome (TRAPS); (n=9/20%); Blau syndrome (n=8/17%); hyperimmunoglobulin D syndrome (HIDS) (n=2/4.3%), deficiency of adenosine deaminase-2 and NLRC4-Autoinflammatory disease] (one each) were included. Conjunctivitis (n=26/56.5%) and uveitis (n=23/50%) were the most frequent ocular manifestations. Twelve (26.1%) patients developed structural complications, being cataracts (n=11/24%) and posterior synechiae (n=10/22%) the most frequent. Conjunctivitis predominated in TRAPS, FMF, MWS and HIDS (mainly in adults), and uveitis, in Blau syndrome. Seven (8%) eyes (all with uveitis) presented with impaired visual acuity. Local and systemic treatment led to good visual outcomes in most patients. Compared with previous studies mainly including paediatric patients, less severe ocular involvement was observed in our adult/paediatric cohort.
CONCLUSIONS:
Conjunctivitis was the most common ocular manifestation in our TRAPS, FMF, MWS and HIDS patients, and uveitis predominated in Blau syndrome. Severe eye complications and poor visual prognosis were associated with uveitis. Adults with monogenic autoinflammatory diseases seem to exhibit a less severe ophthalmologic presentation than paediatric patients.

DOI: https://doi.org/10.55563/clinexprheumatol/ukegcc

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