1. Knowledge and Current Practices in Monogenic Uveitis: An International Survey by IUSG and AIDA Network
- Author
-
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, and Claudia Fabiani
- Subjects
Autoinflammatory diseases ,Differential diagnosis ,Genetic uveitis ,Pathogenesis ,Rare diseases ,Ophthalmology ,RE1-994 - Abstract
Abstract 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 0.05). The public healthcare system ensured a higher percentage of tests prescribed were obtained by patients compared to private insurances (p
- Published
- 2023
- Full Text
- View/download PDF