Evidence map›Paper›PMID 37924480›Full record

ArticleOphthalmology and therapy2024

Knowledge and Current Practices in Monogenic Uveitis: An International Survey by IUSG and AIDA Network.

Carla Gaggiano, Vishali Gupta, Rupesh Agrawal, Marc D De Smet, Bruno Frediani, Gian Marco Tosi, Maria Pia Paroli, Sudharshan Sridharan, Carlos E Pavesio, Uwe Pleyer and 12 more

Open access · goldAbstract read
In one paragraph

Article in Ophthalmology and therapy, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 41% of its field
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Article
4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors at 16 institutions in 10 countries.

Carla GaggianoDepartment of Medical Sciences, Surgery and Neurosciences, Rheumatology Unit, University of Siena and Azienda Ospedaliero-Universitaria Senese (European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center), Policlinico "Le Scotte", Viale Bracci 16, 53100, Siena, Italy.
Vishali GuptaAdvanced Eye Centre, Postgraduate Institute of Medical Education and Research, QQ7H+JW3, Vidya Path, Sector 12, Chandigarh, 160012, India.
Rupesh Agrawal11 Jalan Tan Tock Seng, Level 1, TTSH Medical Centre, National Healthcare Group Eye Institute, Tan Tock Seng Hospital, Singapore, 308433, Singapore.
Marc D De SmetMicroInvasive Ocular Surgery Clinic, Av. du Léman 32, 1005, Lausanne, Switzerland.
Bruno FredianiDepartment of Medical Sciences, Surgery and Neurosciences, Rheumatology Unit, University of Siena and Azienda Ospedaliero-Universitaria Senese (European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center), Policlinico "Le Scotte", Viale Bracci 16, 53100, Siena, Italy.
Gian Marco TosiOphthalmology Unit, Department of Medicine, Surgery and Neurosciences, University of Siena and Azienda Ospedaliero-Universitaria Senese, (European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory, and Autoimmune Diseases (RITA) Center), Policlinico "Le Scotte", Viale Bracci 16, 53100, Siena, Italy.
Maria Pia ParoliDepartment of Sense Organs, Eye Clinic, Uveitis Unit, Sapienza University of Rome, Policlinico Umberto I University Hospital, Via Giovanni Maria Lancisi, 2, 00161, Rome, Italy.
Sudharshan SridharanDepartment of Uvea, Medical and Vision Research Foundations, Sankara Nethralaya, No. 41, College Road, Chennai, Tamil Nadu, 600 006, India.
Carlos E PavesioMoorfields Eye Hospital, NHS Foundation Trust, 162 City Road, London, EC1V 2PD, UK.
Uwe PleyerKlinik Für Augenheilkunde, Berlin Institute of Health, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Zu Berlin, Augustenburger Platz 1, 13353, Berlin, Deutschland.
Ekaterina V DenisovaHelmholtz National Medical Research Center of Eye Diseases, Moscow, 105062, Russia.
Kalpana BabuDepartment of Uvea and Ocular Inflammation, Prabha Eye Clinic and Research Centre, Vittala International Institute of Ophthalmology, 504, 40Th Cross Rd, 8Th Block, Jayanagar, Bengaluru, Karnataka, 560070, India.
Alejandra de-la-TorreNeuroscience Research Group (NEUROS), Neurovitae Center for Neuroscience, Institute of Translational Medicine (IMT), School of Medicine and Health Sciences, Universidad del Rosario, Cra 27 #63 C 39, Bogotá, Colombia.
Peizeng YangChongqing Key Laboratory of Ophthalmology, Chongqing Eye Institute, Chongqing Branch (Municipality Division) of National Clinical Research Center for Ocular Diseases, The First Affiliated Hospital of Chongqing Medical University, Youyi Road 1, Yuzhong District, 400016, Chongqing, People's Republic of China.
Janet L DavisDepartment of Ophthalmology, University of Miami Miller School of Medicine, Bascom Palmer Eye Institute, 900 NW 17Th St, Miami, FL, 33136, USA.
Emmett T CunninghamThe Department of Ophthalmology, California Pacific Medical Center, 711 Van Ness Ave #250, San Francisco, CA, 94102, USA.
Ester CarreñoHospital Universitario Fundacion Jimenez Diaz, Av. de los Reyes Católicos, 2, 28040, Madrid, Spain.
Debra GoldsteinDepartment of Ophthalmology, Northwestern University Feinberg School of Medicine, 645 N. Michigan Ave. Suite 440, Chicago, IL, 60611, USA.
Alex FonollosaDepartment of Ophthalmology, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, University of the Basque Country, Cruces Plaza, 48903, Barakaldo, Bizkaia, Spain.
Luca CantariniDepartment of Medical Sciences, Surgery and Neurosciences, Rheumatology Unit, University of Siena and Azienda Ospedaliero-Universitaria Senese (European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center), Policlinico "Le Scotte", Viale Bracci 16, 53100, Siena, Italy. cantariniluca@hotmail.com.ORCID http://orcid.org/0000-0002-7352-1275
Lucia Sobrin *Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, 243 Charles St, Boston, MA, 02114, USA.
Claudia Fabiani *Ophthalmology Unit, Department of Medicine, Surgery and Neurosciences, University of Siena and Azienda Ospedaliero-Universitaria Senese, (European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory, and Autoimmune Diseases (RITA) Center), Policlinico "Le Scotte", Viale Bracci 16, 53100, Siena, Italy. claudia.fabiani@aidanetwork.org.
University of Siena · ITCalifornia Pacific Medical Center · USFreie Universität Berlin · DEHelmholtz Moscow Research Institute of Eye Diseases · RUHospital Universitario Fundación Jiménez Díaz · ESMassachusetts Eye and Ear Infirmary · USMoorfields Eye Hospital NHS Foundation Trust · GBNational University of Singapore · SGNorthwestern University · USPoliclinico Umberto I · ITPost Graduate Institute of Medical Education and Research · INSankara Nethralaya · INThe Affiliated Yongchuan Hospital of Chongqing Medical University · CNUniversidad del Rosario · COUniversity of Miami · USUniversity of the Basque Country · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionThis study aims to explore awareness, knowledge, and diagnostic/therapeutic practices in monogenic uveitis (mU) among uveitis experts.

methodsThis is an explorative, cross-sectional survey study. An anonymous, semi-structured, electronic survey was delivered to uveitis experts from the Autoinflammatory Diseases Alliance (AIDA) Network and International Uveitis Study Group (IUSG). We included respondents answering ≥ 50% of the survey.

resultsSeventy-seven participants rated their knowledge of mU as proficient (3.9%), adequate (15.6%), sufficient (16.9%), or poor (63.6%). When asked about the first mU gene they thought of, 60.4% mentioned NOD2, 3.9% mentioned NLRP3 or MEFV, and 49.4% provided incorrect or no answers. Success rates in clinical scenarios varied from 15.6% to 55.8% and were higher for ophthalmologists working in multidisciplinary teams (p < 0.01). Genetic testing was ordered for suspected mU by 41.6% of physicians. The availability of molecular techniques did not significantly differ based on geography (p > 0.05). The public healthcare system ensured a higher percentage of tests prescribed were obtained by patients compared to private insurances (p < 0.00). In terms of disease-modifying anti-rheumatic drugs (DMARDs), tumor necrosis factor-α inhibitors were the most familiar to uveitis experts. The difficulties with off-label therapy procedures were the primary barrier to DMARDs prescription for patients with mU and correlated inversely with the obtained/prescribed drug ratio for interleukin-1 (p < 0.01) and interleukin-6 (p < 0.01) inhibitors.

conclusionsThis survey identifies proficiency areas, gaps, and opportunities for targeted improvements in patients care. The comprehensive outputs may inform evidence-based guidelines, empowering clinicians with standardized approaches, and drive an AIDA Network-IUSG unified effort to advance scientific knowledge and clinical practice.

Indexed as

Autoinflammatory diseasesDifferential diagnosisGenetic uveitisPathogenesisRare diseases

Identifiers

PMID37924480
PMCPMC10776548
OpenAlexW4388348318

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