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The author(s) declare financial support was received for the research, authorship, and/or publication of this article. JH-R and VG-C were supported by Instituto de Salud Carlos III (ISCIII) through the project PI21/01352 and co-funded by the European Union.

Analysis of institutional authors

Pelegrin, LauraAuthorHernandez-Rodriguez, JoseCorresponding Author
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Review

Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases

Publicated to:Frontiers In Ophthalmology. 4 1337329- - 2024-02-22 4(), DOI: 10.3389/fopht.2024.1337329

Authors: Fonollosa, Alex; Carreno, Ester; Vitale, Antonio; Jindal, Ankur K; Ramanan, Athimalaipet V; Pelegrin, Laura; Santos-Zorrozua, Borja; Gomez-Caverzaschi, Veronica; Cantarini, Luca; Fabiani, Claudia; Hernandez-Rodriguez, Jose

Affiliations

BioCruces Hlth Res Inst, Dept Biostat, Bilbao, Spain - Author
Catalan Ctr Xarxa Unitats Expertesa Clin XUEC Auto, Barcelona, Spain - Author
Fdn Jimenez Diaz Univ Hosp, Dept Ophthalmol, Madrid, Spain - Author
Inst Oftalmol Bilbao, Dept Retina, Bilbao, Spain - Author
Postgrad Inst Med Educ & Res PGIMER, Adv Pediat Ctr, Dept Pediat, Allergy Immunol Unit, Chandigarh, India - Author
Rey Juan Carlos Univ Hosp, Dept Ophthalmol, Madrid, Spain - Author
Univ Barcelona, Hosp Clin Barcelona, Dept Autoimmune Dis,Inst Invest Biomed August Pi &, Autoinflammatory Dis Clin Unit,Ctr European Refere, Barcelona, Spain - Author
Univ Barcelona, Hosp Clin Barcelona, Inst Invest Biomed August Pi & Sunyer IDIBAPS, Dept Ophthalmol,Inst Clin Oftalmol ICOF, Barcelona, Spain - Author
Univ Basque Country, Cruces Univ Hosp, BioCruces Bizkaia Hlth Res Inst, Dept Ophthalmol, Baracaldo, Spain - Author
Univ Bristol, Bristol Royal Hosp Children & Translat Hlth Sci, Dept Paediat Rheumatol, Bristol, England - Author
Univ Siena, Ctr European Reference Network ERN, Dept Med Sci Surg & Neurosci, Behcets Dis Clin,Rare Immunodeficiency Autoinflamm, Siena, Italy - Author
Univ Siena, Ctr European Reference Network ERN, Dept Med Surg & Neurosci, Ophthalmol Unit,Rare Immunodeficiency Autoinflamm, Siena, Italy - Author
Univ Siena, Res Ctr Syst Autoinflammatory Dis, Ctr European Reference Network ERN, Rare Immunodeficiency Autoinflammatory & Autoimmun, Siena, Italy - Author
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Abstract

Autoinflammatory diseases include disorders with a genetic cause and also complex syndromes associated to polygenic or multifactorial factors. Eye involvement is present in many of them, with different extent and severity. The present review covers ophthalmological lesions in the most prevalent monogenic autoinflammatory diseases, including FMF (familial Mediterranean fever), TRAPS (TNF receptor-associated periodic syndrome), CAPS (cryopyrin-associated periodic syndromes), Blau syndrome, DADA2 (deficiency of adenosine deaminase 2), DITRA (deficiency of the interleukin-36 receptor antagonist), other monogenic disorders, including several ubiquitinopathies, interferonopathies, and the recently described ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome, and VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Among polygenic autoinflammatory diseases, ocular manifestations have been reviewed in Beh & ccedil;et's disease, PFAPA (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) syndrome, Still's disease and autoinflammatory bone diseases, which encompass CRMO (chronic recurrent multifocal osteomyelitis) and SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome.

Keywords
Aphthous stomatitisAutoinflammatory diseasesCervical adenitis syndromeChinese patientChoroidal thicknessClinical-featuresConjunctivitisFamilial mediterranean feverMevalonate kinase-deficiencyMonogenic autoinflammatory diseasesOcular inflammationOnset stills-diseasePeriodic feverPolygenic autoinflammatory diseasesPurtscher-like retinopathyRetinal vasculitiRetinal vasculitisUveitis

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

Independientemente del impacto esperado determinado por el canal de difusión, es importante destacar el impacto real observado de la propia aportación.

Según las diferentes agencias de indexación, el número de citas acumuladas por esta publicación hasta la fecha 2025-05-02:

  • WoS: 1
  • Scopus: 3
  • OpenCitations: 1
Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-05-02:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 18.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 18 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 7.5.
  • The number of mentions on the social network X (formerly Twitter): 15 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.
Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: India; Italy; United Kingdom.

There is a significant leadership presence as some of the institution’s authors appear as the first or last signer, detailed as follows: Last Author (Hernández Rodríguez, José).

the author responsible for correspondence tasks has been Hernández Rodríguez, José.