Inge L Sarens1, Ingele Casteels2, Jordi Anton3, Brigitte Bader-Meunier4, Philippe Brissaud5, Gaelle Chédeville6, Rolando Cimaz7, Andrew D Dick8, Graciella Espada9, Jorge Fernandez-Martin10, Catherine M Guly8, Eric Hachulla11, Miroslav Harjacek12, Raju Khubchandani13, Friederike Mackensen14, Rosa Merino15, Consuelo Modesto16, Antonio Naranjo17, Sheila Oliveira-Knupp18, Seza Özen19, Christine Pajot20, Athimalaipet V Ramanan21, Ricardo Russo22, Gordana Susic23, Akaluck Thatayatikom24, Caroline Thomée25, Sebastiaan Vastert26, John Bertin27, Juan I Arostegui28, Carlos D Rose29, Carine H Wouters30. 1. Department of Ophthalmology, Catholic University of Leuven (KU Leuven), Leuven, Belgium. Electronic address: inge.sarens@uzleuven.be. 2. Department of Ophthalmology, Catholic University of Leuven (KU Leuven), Leuven, Belgium. 3. Pediatric Rheumatology Unit, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain. 4. Unité d'Immunologie, Hématologie et Rhumatologie Pediatrique, Hospital Necker-Enfants Malades, Inserm U 768, Imagine Foundation, Paris, France. 5. Rheumatology Practice, Neuilly-sur-Seine, France. 6. Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada. 7. Dipartimento de Pediatria, Universita degli Studi di Firenze, Florence, Italy. 8. Bristol Eye Hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom. 9. Pediatric Rheumatology Unit, Hospital de Niños Ricardo Gutierrez, Universidad de Buenos Aires, Buenos Aires, Argentina. 10. Servicio de Medicine Interna, Hospital Alvaro Cunquiero-Complejo Hospitalario Universitario de Vigo, Universidad de Santiago de Compostela, Vigo, Spain. 11. Service de Médecine Interne, Hôpital Claude Huriez, Université de Lille, Lille, France. 12. Department of Rheumatology, University of Zagreb, Zagreb, Croatia. 13. Department of Pediatrics, Jaslok Hospital, Mumbai, India. 14. Interdisciplinary Uveitis Center, Universitat Klinikum Heidelberg, Heidelberg, Germany. 15. Unidad de Reumatologia Pediatrica, Hospital La Paz, Madrid, Spain. 16. Pediatric Rheumatology, Hospital Universitario Valle de Hebron, Barcelona, Spain. 17. Servicio de Rheumatologia, Hospital de Gran Canarias Dr Negrin, Las Palmas, Spain. 18. Instituto de Puericultura e Pediatria Martagao Gesteira (IPPMG), Universidade Federal de Rio de Janeiro, Rio de Janeiro, Brazil. 19. Department of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey. 20. Pédiatrie-Néphrologie, Médecine Interne et Hypertension, Hôpital des Enfants, Toulouse, France. 21. Department of Pediatric Rheumatology, Bristol Royal Hospital for Children, Bristol, United Kingdom. 22. Service of Immunology/Rheumatology, Hospital de Pediatria Garrahan, Buenos Aires, Argentina. 23. Pediatric Rheumatology, Institute of Rheumatology, Belgrade, Serbia. 24. Division of Allergy/Immunology/Rheumatology, Department of Pediatrics, University of Florida, Gainesville, Florida. 25. Pediatric Clinic, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg. 26. Division of Pediatrics, Department of Pediatric Immunology and Rheumatology, UMC Utrecht, Utrecht, Netherlands. 27. Pattern Recognition Receptor Discovery Performance Unit, Immuno-inflammation Therapeutic Area, GlaxoSmithKline, Collegeville, Pennsylvania. 28. Department of Immunology-CDB, Hospital Clinic - IDIBAPS, Barcelona, Spain. 29. Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware. 30. Department of Pediatric Rheumatology, Catholic University of Leuven (KU Leuven), Leuven, Belgium.
Abstract
PURPOSE: Provide baseline and preliminary follow-up results in a 5-year longitudinal study of Blau syndrome. DESIGN: Multicenter, prospective interventional case series. METHODS: Baseline data from 50 patients from 25 centers worldwide, and follow-up data for patients followed 1, 2, or 3 years at the end of study enrollment. Ophthalmic data were collected at baseline and yearly visits by means of a standardized collection form. RESULTS: Median age at onset of eye disease was 60 months and duration of eye disease at baseline 145 months. At baseline 38 patients (78%) had uveitis, which was bilateral in 37 (97%). Eight patients (21%) had moderate to severe visual impairment. Panuveitis was found in 38 eyes (51%), with characteristic multifocal choroidal infiltrates in 29 eyes (39%). Optic disc pallor in 9 eyes (12%) and peripapillary nodules in 9 eyes (12%) were the commonest signs of optic nerve involvement. Active anterior chamber inflammation was noted in 30 eyes (40%) at baseline and in 16 (34%), 17 (57%), and 11 (61%) eyes at 1, 2, and 3 years, respectively. Panuveitis was associated with longer disease duration. At baseline, 56 eyes (75%) were on topical corticosteroids. Twenty-six patients (68%) received a combination of systemic corticosteroids and immunomodulatory therapy. CONCLUSIONS: Blau uveitis is characterized by progressive panuveitis with multifocal choroiditis, resulting in severe ocular morbidity despite continuous systemic and local immunomodulatory therapy. The frequency and severity of Blau uveitis highlight the need for close ophthalmologic surveillance as well as a search for more effective therapies.
PURPOSE: Provide baseline and preliminary follow-up results in a 5-year longitudinal study of Blau syndrome. DESIGN: Multicenter, prospective interventional case series. METHODS: Baseline data from 50 patients from 25 centers worldwide, and follow-up data for patients followed 1, 2, or 3 years at the end of study enrollment. Ophthalmic data were collected at baseline and yearly visits by means of a standardized collection form. RESULTS: Median age at onset of eye disease was 60 months and duration of eye disease at baseline 145 months. At baseline 38 patients (78%) had uveitis, which was bilateral in 37 (97%). Eight patients (21%) had moderate to severe visual impairment. Panuveitis was found in 38 eyes (51%), with characteristic multifocal choroidal infiltrates in 29 eyes (39%). Optic disc pallor in 9 eyes (12%) and peripapillary nodules in 9 eyes (12%) were the commonest signs of optic nerve involvement. Active anterior chamber inflammation was noted in 30 eyes (40%) at baseline and in 16 (34%), 17 (57%), and 11 (61%) eyes at 1, 2, and 3 years, respectively. Panuveitis was associated with longer disease duration. At baseline, 56 eyes (75%) were on topical corticosteroids. Twenty-six patients (68%) received a combination of systemic corticosteroids and immunomodulatory therapy. CONCLUSIONS:Blau uveitis is characterized by progressive panuveitis with multifocal choroiditis, resulting in severe ocular morbidity despite continuous systemic and local immunomodulatory therapy. The frequency and severity of Blau uveitis highlight the need for close ophthalmologic surveillance as well as a search for more effective therapies.
Authors: Ruth J Napier; Ellen J Lee; Michael P Davey; Emily E Vance; João M Furtado; Paige E Snow; Kimberly A Samson; Sydney J Lashley; Brieanna R Brown; Reiko Horai; Mary J Mattapallil; Biying Xu; Michelle C Callegan; Luke S Uebelhoer; Christina L Lancioni; Richard K Vehe; Bryce A Binstadt; Justine R Smith; Rachel R Caspi; Holly L Rosenzweig Journal: Nat Commun Date: 2020-10-26 Impact factor: 14.919