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

作者全名："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.; Carreno, Ester; Goldstein, Debra; Fonollosa, Alex; Cantarini, Luca; Sobrin, Lucia; Fabiani, Claudia"

作者地址："[Gaggiano, Carla; Frediani, Bruno; Cantarini, Luca] Univ Siena, Dept Med Sci Surg & Neurosci, Rheumatol Unit, Viale Bracci 16, I-53100 Siena, Italy; [Gaggiano, Carla; Frediani, Bruno; Cantarini, Luca] Azienda Osped Univ Senese, European Reference Network ERN Rare Immunodeficien, Autoinflammatory & Autoimmune Dis Rita Ctr, Policlin Le Scotte, Viale Bracci 16, I-53100 Siena, Italy; [Gupta, Vishali] Postgrad Inst Med Educ & Res, Adv Eye Ctr, QQ7H JW3,Vidya Path, Sect 12, Chandigarh 160012, India; [Agrawal, Rupesh] Tan Tock Seng Hosp, Natl Healthcare Grp Eye Inst, TTSH Med Ctr, 11 Jalan Tan Tock Seng, Level 1, Singapore 308433, Singapore; [Agrawal, Rupesh] Lee Kong Chian Sch Med, 11 Mandalay Rd, 17 01, Singapore 308232, Singapore; [Agrawal, Rupesh] Singapore Eye Res Inst, Level 6 Discovery Tower,Acad, 20 Coll Rd, Singapore 169856, Singapore; [Agrawal, Rupesh] Duke NUS Med Sch, 8 Coll Rd, Singapore 169857, Singapore; [Agrawal, Rupesh] Natl Univ Singapore, Yong Loo Lin Sch Med, 10 Med Dr, Singapore 117597, Singapore; [De Smet, Marc D.] MicroInvas Ocular Surg Clin, Av Leman 32, CH-1005 Lausanne, Switzerland; [Tosi, Gian Marco; Fabiani, Claudia] Univ Siena, Dept Med Surg & Neurosci, Ophthalmol Unit, Viale Bracci 16, I-53100 Siena, Italy; [Paroli, Maria Pia] Sapienza Univ Rome, Policlin Umberto Univ Hosp 1, Dept Sense Organs, Eye Clin,Uveitis Unit, Via Giovanni Maria Lancisi, 2, I-00161 Rome, Italy; [Sridharan, Sudharshan] Sankara Nethralaya, Dept Uvea, Med & Vis Res Fdn, 41 Coll Rd, Chennai 600006, Tamil Nadu, India; [Pavesio, Carlos E.] Moorfields Eye Hosp, NHS Fdn Trust, 162 City Rd, London EC1V 2PD, England; [Pleyer, Uwe] Charite Univ Med Berlin, Berlin Inst Hlth, Klin Augenheilkunde, Berlin, Germany; [Pleyer, Uwe] Free Univ Berlin, Berlin, Germany; [Pleyer, Uwe] Humboldt Univ, Augustenburger Pl 1, D-13353 Berlin, Germany; [Denisova, Ekaterina V.] Helmholtz Natl Med Res Ctr Eye Dis, Moscow 105062, Russia; [Babu, Kalpana] Vittala Int Inst Ophthalmol, Prabha Eye Clin & Res Ctr, Dept Uvea & Ocular Inflammat, 504, 40Th Cross Rd, 8Th Block, Jayanagar, Bengaluru 560070, Karnataka, India; [de-la-Torre, Alejandra] Univ Rosario, Inst Translat Med IMT, Neurovitae Ctr Neurosci, Sch Med & Hlth Sci,Neurosci Res Grp NEUROS, Cra 27 63 C 39, Bogota, Colombia; [Yang, Peizeng] Chongqing Med Univ, Chongqing Eye Inst, Chongqing Key Lab Ophthalmol,Affiliated Hosp 1, Chongqing Branch,Municipal Div,Natl Clin Res Ctr O, Youyi Rd 1, Chongqing 400016, Peoples R China; [Davis, Janet L.] Univ Miami, Miller Sch Med, Bascom Palmer Eye Inst, Dept Ophthalmol, 900 NW 17th St, Miami, FL 33136 USA; [Cunningham, Emmett T.] Calif Pacific Med Ctr, Dept Ophthalmol, 711 Van Ness Ave 250, San Francisco, CA 94102 USA; [Cunningham, Emmett T.] Stanford Univ, Dept Ophthalmol, Sch Med, 291 Campus Dr, Li Ka Shing Bldg, Stanford, CA 94305 USA; [Cunningham, Emmett T.] UCSF, Francis I Proctor Fdn, Sch Med, 490 Illinois St, San Francisco, CA 94158 USA; [Carreno, Ester] Hosp Univ Fdn Jimenez Diaz, Av Reyes Catolicos, 2, Madrid 28040, Spain; [Goldstein, Debra] Northwestern Univ, Feinberg Sch Med, Dept Ophthalmol, 645 N Michigan Ave,Suite 440, Chicago, IL 60611 USA; [Fonollosa, Alex] Univ Basque Country, Cruces Univ Hosp, Biocruces Bizkaia Hlth Res Inst, Dept Ophthalmol, Cruces Pl, Baracaldo 48903, Bizkaia, Spain; [Fonollosa, Alex] Inst Oftalmol Bilbao, Dept Retina, Berastegui 4, 1 Izq, Bilbao 48001, Spain; [Sobrin, Lucia] Harvard Med Sch, Massachusetts Eye & Ear Infirm, Dept Ophthalmol, 243 Charles St, Boston, MA 02114 USA"

通信作者："Cantarini, L (通讯作者)，Univ Siena, Dept Med Sci Surg & Neurosci, Rheumatol Unit, Viale Bracci 16, I-53100 Siena, Italy.; Fabiani, C (通讯作者)，Univ Siena, Dept Med Surg & Neurosci, Ophthalmol Unit, Viale Bracci 16, I-53100 Siena, Italy."

来源：OPHTHALMOLOGY AND THERAPY

ESI学科分类：　

WOS号：WOS:001099564200001

JCR分区：Q2

影响因子：2.6

年份：2023

卷号：　

期号：　

开始页：　

结束页：　

文献类型：Article; Early Access

关键词：Autoinflammatory diseases; Differential diagnosis; Genetic uveitis; Pathogenesis; Rare diseases

摘要："<bold>Introduction: </bold>This study aims to explore awareness, knowledge, and diagnostic/therapeutic practices in monogenic uveitis (mU) among uveitis experts.<bold>Methods: </bold>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.<bold>Results: </bold>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-alpha 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.<bold>Conclusions: </bold>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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