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

• Published in: Ophthalmology and therapy Vol. 13; no. 1; pp. 127 - 147
• Main Authors: Gaggiano, Carla, Gupta, Vishali, Agrawal, Rupesh, De Smet, Marc D., Frediani, Bruno, Tosi, Gian Marco, Paroli, Maria Pia, Sridharan, Sudharshan, Pavesio, Carlos E., Pleyer, Uwe, Denisova, Ekaterina V., Babu, Kalpana, de-la-Torre, Alejandra, Yang, Peizeng, Davis, Janet L., Cunningham, Emmett T., Carreño, Ester, Goldstein, Debra, Fonollosa, Alex, Cantarini, Luca, Sobrin, Lucia, Fabiani, Claudia
• Format: Journal Article
• Language: English
• Published: Cheshire Springer Healthcare 01-01-2024; Adis, Springer Healthcare
• Subjects: Autoinflammatory diseases; Differential diagnosis; Genetic uveitis; Internal Medicine; Medicine; Medicine & Public Health; Ophthalmology; Original Research; Pathogenesis; Rare diseases; Rare diseases; Autoinflammatory diseases; Genetic uveitis; Differential diagnosis; Pathogenesis
• ISSN: 2193-8245; 2193-6528
• DOI: 10.1007/s40123-023-00839-1

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-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.
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.