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

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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, Ekaterina V. Denisova, Kalpana Babu, Alejandra de-la-Torre, Peizeng Yang, Janet L. Davis, Emmett T. Cunningham, Ester Carreño, Debra Goldstein, Alex Fonollosa, Luca Cantarini, Lucia Sobrin & Claudia Fabiani



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Universidad del Rosario

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Introduction: This study aims to explore awareness, knowledge, and diagnostic/therapeutic practices in monogenic uveitis (mU) among uveitis experts. Methods: This 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. Results: Seventy-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-? 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.Conclusions: This 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.
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Autoinflammatory diseases , Differential diagnosis , Genetic uveitis , Pathogenesis , Rare diseases
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