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

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

doi:10.1007/s40123-023-00839-1

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

Ophthalmol Ther. 2024 Jan;13(1):127-147. doi: 10.1007/s40123-023-00839-1. Epub 2023 Nov 4.

Authors

Carla Gaggiano¹, Vishali Gupta², Rupesh Agrawal^{3

4

5

6

7}, Marc D De Smet⁸, Bruno Frediani¹, Gian Marco Tosi⁹, Maria Pia Paroli¹⁰, Sudharshan Sridharan¹¹, Carlos E Pavesio¹², Uwe Pleyer¹³, Ekaterina V Denisova¹⁴, Kalpana Babu¹⁵, Alejandra de-la-Torre¹⁶, Peizeng Yang¹⁷, Janet L Davis¹⁸, Emmett T Cunningham^{19

20

21}, Ester Carreño²², Debra Goldstein²³, Alex Fonollosa^{24

25}, Luca Cantarini²⁶, Lucia Sobrin^#²⁷, Claudia Fabiani^#²⁸

Affiliations

¹ Department of Medical Sciences, Surgery and Neurosciences, Rheumatology Unit, University of Siena and Azienda Ospedaliero-Universitaria Senese (European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center), Policlinico "Le Scotte", Viale Bracci 16, 53100, Siena, Italy.
² Advanced Eye Centre, Postgraduate Institute of Medical Education and Research, QQ7H+JW3, Vidya Path, Sector 12, Chandigarh, 160012, India.
³ 11 Jalan Tan Tock Seng, Level 1, TTSH Medical Centre, National Healthcare Group Eye Institute, Tan Tock Seng Hospital, Singapore, 308433, Singapore.
⁴ Lee Kong Chian School of Medicine, 11 Mandalay Rd, #17-01, Singapore, 308232, Singapore.
⁵ Singapore Eye Research Institute, Level 6 Discovery Tower, The Academia, 20 College Rd, Singapore, 169856, Singapore.
⁶ Duke NUS Medical School, 8 College Rd, Singapore, 169857, Singapore.
⁷ Yong Loo Lin School of Medicine, National University of Singapore, 10 Medical Dr, Singapore, 117597, Singapore.
⁸ MicroInvasive Ocular Surgery Clinic, Av. du Léman 32, 1005, Lausanne, Switzerland.
⁹ Ophthalmology Unit, Department of Medicine, Surgery and Neurosciences, University of Siena and Azienda Ospedaliero-Universitaria Senese, (European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory, and Autoimmune Diseases (RITA) Center), Policlinico "Le Scotte", Viale Bracci 16, 53100, Siena, Italy.
¹⁰ Department of Sense Organs, Eye Clinic, Uveitis Unit, Sapienza University of Rome, Policlinico Umberto I University Hospital, Via Giovanni Maria Lancisi, 2, 00161, Rome, Italy.
¹¹ Department of Uvea, Medical and Vision Research Foundations, Sankara Nethralaya, No. 41, College Road, Chennai, Tamil Nadu, 600 006, India.
¹² Moorfields Eye Hospital, NHS Foundation Trust, 162 City Road, London, EC1V 2PD, UK.
¹³ Klinik Für Augenheilkunde, Berlin Institute of Health, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Zu Berlin, Augustenburger Platz 1, 13353, Berlin, Deutschland.
¹⁴ Helmholtz National Medical Research Center of Eye Diseases, Moscow, 105062, Russia.
¹⁵ Department of Uvea and Ocular Inflammation, Prabha Eye Clinic and Research Centre, Vittala International Institute of Ophthalmology, 504, 40Th Cross Rd, 8Th Block, Jayanagar, Bengaluru, Karnataka, 560070, India.
¹⁶ Neuroscience Research Group (NEUROS), Neurovitae Center for Neuroscience, Institute of Translational Medicine (IMT), School of Medicine and Health Sciences, Universidad del Rosario, Cra 27 #63 C 39, Bogotá, Colombia.
¹⁷ Chongqing Key Laboratory of Ophthalmology, Chongqing Eye Institute, Chongqing Branch (Municipality Division) of National Clinical Research Center for Ocular Diseases, The First Affiliated Hospital of Chongqing Medical University, Youyi Road 1, Yuzhong District, 400016, Chongqing, People's Republic of China.
¹⁸ Department of Ophthalmology, University of Miami Miller School of Medicine, Bascom Palmer Eye Institute, 900 NW 17Th St, Miami, FL, 33136, USA.
¹⁹ The Department of Ophthalmology, California Pacific Medical Center, 711 Van Ness Ave #250, San Francisco, CA, 94102, USA.
²⁰ The Department of Ophthalmology, Stanford University School of Medicine, 291 Campus Drive, Li Ka Shing Building, Stanford, CA, 94305, USA.
²¹ The Francis I. Proctor Foundation, UCSF School of Medicine, 490 Illinois St, San Francisco, CA, 94158, USA.
²² Hospital Universitario Fundacion Jimenez Diaz, Av. de los Reyes Católicos, 2, 28040, Madrid, Spain.
²³ Department of Ophthalmology, Northwestern University Feinberg School of Medicine, 645 N. Michigan Ave. Suite 440, Chicago, IL, 60611, USA.
²⁴ Department of Ophthalmology, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, University of the Basque Country, Cruces Plaza, 48903, Barakaldo, Bizkaia, Spain.
²⁵ Department of Retina, Instituto Oftalmológico Bilbao, Berástegui 4, 1º Izq, 48001, Bilbao, Spain.
²⁶ Department of Medical Sciences, Surgery and Neurosciences, Rheumatology Unit, University of Siena and Azienda Ospedaliero-Universitaria Senese (European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center), Policlinico "Le Scotte", Viale Bracci 16, 53100, Siena, Italy. cantariniluca@hotmail.com.
²⁷ Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, 243 Charles St, Boston, MA, 02114, USA.
²⁸ Ophthalmology Unit, Department of Medicine, Surgery and Neurosciences, University of Siena and Azienda Ospedaliero-Universitaria Senese, (European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory, and Autoimmune Diseases (RITA) Center), Policlinico "Le Scotte", Viale Bracci 16, 53100, Siena, Italy. claudia.fabiani@aidanetwork.org.

^# Contributed equally.

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 < 0.01). 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.

Keywords: Autoinflammatory diseases; Differential diagnosis; Genetic uveitis; Pathogenesis; Rare diseases.