本研究旨在探讨葡萄膜炎专家对单基因葡萄膜炎 (mU) 的认识、知识和诊断/治疗实践。这是一项探索性横断面调查研究。来自自身炎症性疾病联盟 (AIDA) 网络和国际葡萄膜炎研究组 (IUSG) 的葡萄膜炎专家进行了一项匿名、半结构化的电子调查。我们纳入了回答≥50%的受访者。77名参与者将他们的mU知识评为熟练（3.9%）、足够（15.6%）、足够（16.9%）或差（63.6%）。当被问及他们想到的第一个 mU 基因时，60.4% 的人提到了 NOD2，3.9% 的人提到了 NLRP3 或 MEFV，49.4% 的人给出了错误的答案或没有答案。临床场景的成功率从 15.6% 到 55.8% 不等，多学科团队的眼科医生的成功率更高 (p<0.01)。 41.6% 的医生对疑似 mU 进行了基因检测。分子技术的可用性没有因地理位置的不同而显着差异（p > 0.05）。与私人保险相比，公共医疗保健系统确保患者获得更高比例的处方测试（p<0.00）。在缓解病情抗风湿药物（DMARD）方面，葡萄膜炎专家最熟悉的是肿瘤坏死因子-α抑制剂。超说明书治疗程序的困难是 mU 患者处方 DMARD 的主要障碍，并且与白细胞介素 1 (p < 0.01) 和白细胞介素 6 (p < 0.01) 抑制剂的获得/处方药物比率成反比。调查确定了患者护理方面的熟练领域、差距和有针对性的改进机会。综合输出可以为循证指南提供信息，为临床医生提供标准化方法，并推动 AIDA 网络-IUSG 统一努力，以推进科学知识和临床实践。© 2023。作者。

This study aims to explore awareness, knowledge, and diagnostic/therapeutic practices in monogenic uveitis (mU) among uveitis experts.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.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.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.© 2023. The Author(s).