Department of Ophthalmology, BioCruces Bizkaia Health Research Institute, Cruces University Hospital, University of the Basque Country, Barakaldo; Instituto Oftalmológico Bilbao, and Cooperative Health Network for Research in Ophthalmology (Oftared), National Institute of Health Carlos III, ISCIII, Madrid, Spain.
Department of Ophthalmology, Institut Clínic d'Oftalmologia (ICOF), Hospital Clinic de Barcelona, University of Barcelona, Institut de Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
Clin Exp Rheumatol. 2023 Oct;41(10):2105-2114. doi: 10.55563/clinexprheumatol/ukegcc. Epub 2023 Sep 28.
Ophthalmologic involvement in monogenic autoinflammatory diseases has been explored mainly in paediatric patients. The aim of this study is to characterise ophthalmologic manifestations, therapeutic management and visual outcomes in a Spanish (UVESAI) cohort of adult/paediatric patients with monogenic autoinflammatory diseases.
Multicentre and retrospective study of patients with monogenic autoinflammatory diseases and ocular involvement. Eye manifestations, structural complications, treatments used and visual outcomes were analysed, and compared with previous studies.
Forty-six patients (44/2 adults/children; 21/25 adult/paediatric-onset) with monogenic autoinflammatory diseases [cryopyrin associated periodic syndromes (n=13/28.3%), mainly Muckle-Wells syndrome (MWS) (n=11/24%); familial Mediterranean fever (FMF) (n=12/26%); TNF receptor-associated periodic syndrome (TRAPS); (n=9/20%); Blau syndrome (n=8/17%); hyperimmunoglobulin D syndrome (HIDS) (n=2/4.3%), deficiency of adenosine deaminase-2 and NLRC4-Autoinflammatory disease] (one each) were included. Conjunctivitis (n=26/56.5%) and uveitis (n=23/50%) were the most frequent ocular manifestations. Twelve (26.1%) patients developed structural complications, being cataracts (n=11/24%) and posterior synechiae (n=10/22%) the most frequent. Conjunctivitis predominated in TRAPS, FMF, MWS and HIDS (mainly in adults), and uveitis, in Blau syndrome. Seven (8%) eyes (all with uveitis) presented with impaired visual acuity. Local and systemic treatment led to good visual outcomes in most patients. Compared with previous studies mainly including paediatric patients, less severe ocular involvement was observed in our adult/paediatric cohort.
Conjunctivitis was the most common ocular manifestation in our TRAPS, FMF, MWS and HIDS patients, and uveitis predominated in Blau syndrome. Severe eye complications and poor visual prognosis were associated with uveitis. Adults with monogenic autoinflammatory diseases seem to exhibit a less severe ophthalmologic presentation than paediatric patients.
单基因自身炎症性疾病的眼部受累主要在儿科患者中进行了研究。本研究的目的是描述西班牙（UVESAI）一组单基因自身炎症性疾病的成年/儿科患者的眼部表现、治疗管理和视力结果。
对患有单基因自身炎症性疾病和眼部受累的患者进行多中心和回顾性研究。分析眼部表现、结构并发症、使用的治疗方法和视力结果，并与以前的研究进行比较。
46 名（44/2 名成年/儿童；21/25 名成年/儿科发病）患有单基因自身炎症性疾病[冷吡啉相关周期性综合征（n=13/28.3%），主要为 Muckle-Wells 综合征（MWS）（n=11/24%）；家族性地中海热（FMF）（n=12/26%）；肿瘤坏死因子受体相关周期性综合征（TRAPS）；（n=9/20%）；Blau 综合征（n=8/17%）；高免疫球蛋白 D 综合征（HIDS）（n=2/4.3%），腺苷脱氨酶-2 和 NLRC4-自身炎症性疾病缺乏症]的患者被纳入研究。最常见的眼部表现为结膜炎（n=26/56.5%）和葡萄膜炎（n=23/50%）。12 名（26.1%）患者发生结构并发症，白内障（n=11/24%）和后粘连（n=10/22%）最常见。结膜炎在 TRAPS、FMF、MWS 和 HIDS 中更为常见（主要见于成年患者），葡萄膜炎在 Blau 综合征中更为常见。7 只（8%）眼睛（均为葡萄膜炎）视力受损。大多数患者的局部和全身治疗均获得良好的视力结果。与主要包括儿科患者的以前的研究相比，我们的成年/儿科患者中观察到的眼部受累程度较轻。
在我们的 TRAPS、FMF、MWS 和 HIDS 患者中，结膜炎是最常见的眼部表现，而葡萄膜炎在 Blau 综合征中更为常见。严重的眼部并发症和较差的视力预后与葡萄膜炎有关。与儿科患者相比，患有单基因自身炎症性疾病的成年患者似乎表现出较轻的眼部表现。
