Late-Onset Panuveitis in a Chinese Girl with Sporadic Blau Syndrome: A Case Report

被引：0

作者：

Ma, Zicheng ^{[1
]}

Gao, Xinxiao ^{[1
]}

Zhu, Siquan ^{[1
]}

机构：

[1] Capital Med Univ, Beijing Anzhen Hosp, Dept Ophthalmol, Beijing, Peoples R China

来源：

CASE REPORTS IN OPHTHALMOLOGY | 2024年 / 15卷 / 01期

关键词：

Blau syndrome; Late-onset eye manifestations; Panuveitis; Case report; ARTHRITIS; UVEITIS;

D O I：

10.1159/000536005

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Introduction: Blau syndrome (BS) is a rare autoimmune disease. We report here an atypical case of BS. Case Presentation: We present a case of late-onset eye manifestations in a Chinese girl of 18 years old with sporadic BS, presenting with panuveitis. We performed comprehensive ocular examinations including fluorescein fundus angiography and indocyanine green angiography for her. The oral hormone plus local anti-inflammatory eye drops have well controlled the inflammation of her eyes. Conclusion: Our case highlights the necessity of systemic medical history inquiry for every eye discomfort. (c) 2024 The Author(s). Published by S. Karger AG, Basel

引用

页码：388 / 393

页数：6

共 9 条

[1] Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation [J].

Kurokawa, T ;

Kikuchi, T ;

Ohta, K ;

Imai, H ;

Yoshimura, N .

OPHTHALMOLOGY, 2003, 110 (10) :2040-2044

[2]

Marin-Noriega Maria Alejandra, 2020, Am J Ophthalmol Case Rep, V18, P100714, DOI 10.1016/j.ajoc.2020.100714

[3] Role of the NOD2 Genotype in the Clinical Phenotype of Blau Syndrome and Early-Onset Sarcoidosis [J].

Okafuji, Ikuo ;

Nishikomori, Ryuta ;

Kanazawa, Nobuo ;

Kambe, Naotomo ;

Fujisawa, Akihiro ;

Yamazaki, Shin ;

Saito, Megumu ;

Yoshioka, Takakazu ;

Kawai, Tomoki ;

Sakai, Hidemasa ;

Tanizaki, Hideaki ;

Heike, Toshio ;

Miyachi, Yoshiki ;

Nakahata, Tatsutoshi .

ARTHRITIS AND RHEUMATISM, 2009, 60 (01) :242-250

[4] Blau syndrome [J].

Punzi, Leonardo ;

Gava, Alessandra ;

Galozzi, Paola ;

Sfriso, Paolo .

BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY, 2011, 25 (05) :703-714

[5] Pediatric granulomatous arthritis -: An international registry [J].

Rose, Carlos D. ;

Wouters, Carine H. ;

Meiorin, Silvia ;

Doyle, Trudy M. ;

Davey, Michael P. ;

Rosenbaum, James T. ;

Martin, Tammy M. .

ARTHRITIS AND RHEUMATISM, 2006, 54 (10) :3337-3344

[6] Blau Syndrome-Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series [J].

Sarens, Inge L. ;

Casteels, Ingele ;

Anton, Jordi ;

Bader-Meunier, Brigitte ;

Brissaud, Philippe ;

Chedeville, Gaelle ;

Cimaz, Rolando ;

Dick, Andrew D. ;

Espada, Graciella ;

Fernandez-Martin, Jorge ;

Guly, Catherine M. ;

Hachulla, Eric ;

Harjacek, Miroslav ;

Khubchandani, Raju ;

Mackensen, Friederike ;

Merino, Rosa ;

Modesto, Consuelo ;

Naranjo, Antonio ;

Oliveira-Knupp, Sheila ;

Ozen, Seza ;

Pajot, Christine ;

Ramanan, Athimalaipet V. ;

Russo, Ricardo ;

Susic, Gordana ;

Thatayatikom, Akaluck ;

Thomee, Caroline ;

Vastert, Sebastiaan ;

Bertin, John ;

Arostegui, Juan I. ;

Rose, Carlos D. ;

Wouters, Carine H. .

AMERICAN JOURNAL OF OPHTHALMOLOGY, 2018, 187 :158-166

[7] Blau syndrome, clinical and genetic aspects [J].

Sfriso, Paolo ;

Caso, Francesco ;

Tognon, Sofia ;

Galozzi, Paola ;

Gava, Alessandra ;

Punzi, Leonardo .

AUTOIMMUNITY REVIEWS, 2012, 12 (01) :44-51

[8]

Tromp G, 1996, AM J HUM GENET, V59, P1097

[9] Blau Syndrome, the prototypic auto-inflammatory granulomatous disease [J].

Wouters, Carine H. ;

Maes, Anne ;

Foley, Kevin P. ;

Bertin, John ;

Rose, Carlos D. .

PEDIATRIC RHEUMATOLOGY, 2014, 12

← 1 →