Zárate-Pinzón Laura, Mejía-Salgado Germán, Cifuentes-González Carlos, Correa-Jiménez Oscar, Amaris Stefania, Alfaro-Murillo Alberto, Téllez-Zambrano Juanita, Verbel Angie, Monje-Tobar Paula, de-la-Torre Alejandra
Ophthalmology Interest Group Universidad del Rosario (OIG UR), Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.
Neuroscience Research Group (NEUROS), Neurovitae Center for Neuroscience, Institute of Translational Medicine (IMT), School of Medicine and Health Sciences, Universidad del Rosario, Bogotá, Colombia.
J Clin Immunol. 2025 May 13;45(1):92. doi: 10.1007/s10875-025-01880-4.
Although some reports indicate ocular involvement in Inborn Errors of Immunity (IEI) patients, the characteristics of this association remain unclear. Increased awareness can facilitate early diagnosis and prevention of visual complications.
To determine the prevalence and characterize ophthalmological manifestations in patients with IEI.
A systematic literature search was performed across Embase, PubMed, and Lilacs. Observational studies with at least 10 IEI patients exhibiting ophthalmological manifestations were reviewed. A meta-analysis using a random effects model, weighted proportion, and 95% confidence intervals were reported as appropriate.
Sixty-two articles out of the 6,884 studies were included. The pooled prevalence of ocular manifestations in IEI patients was 54% (95%CI = 39-69), with a mean age of 11.1 ± 7.8 years and male predominance. Regarding the type of IEI with ocular involvement, the most frequently affected group was the Combined immunodeficiencies with associated or syndromic features (82%, 95%CI = 66-91), followed by the diseases of immune dysregulation (73%, 95%CI = 27-95), auto-inflammatory disorders (48%, 95%CI = 10-88), and congenital defects of phagocytes (39%, 95%CI = 11-76). Europe had the highest prevalence of patients with ocular manifestations (68%, 95%CI = 32-90). The most common ocular manifestations observed in IEI patients were those affecting ocular mobility, followed by those that involved the anterior segment, posterior segment, eyelids, and adnexal structures.
These results highlight a significant burden of ocular involvement in IEI patients, mainly during childhood and associated with amblyogenic factors. Therefore, ophthalmologists, pediatricians, and immunologists must be involved in early detection to prevent ocular complications and overall well-being.
尽管一些报告表明免疫缺陷病（IEI）患者存在眼部受累情况，但这种关联的特征仍不明确。提高认识有助于早期诊断和预防视觉并发症。
确定IEI患者眼部表现的患病率并对其进行特征描述。
在Embase、PubMed和Lilacs数据库中进行系统的文献检索。对至少有10例出现眼部表现的IEI患者的观察性研究进行综述。适当情况下，采用随机效应模型、加权比例和95%置信区间进行荟萃分析。
6884项研究中的62篇文章被纳入。IEI患者眼部表现的合并患病率为54%（95%CI = 39 - 69），平均年龄为11.1±7.8岁，男性占主导。关于伴有眼部受累的IEI类型，最常受累的组是伴有相关或综合征特征的联合免疫缺陷（82%，95%CI = 66 - 91），其次是免疫失调疾病（73%，95%CI = 27 - 95）、自身炎症性疾病（48%，95%CI = 10 - 88）和吞噬细胞先天性缺陷（39%，95%CI = 11 - 76）。欧洲眼部表现患者的患病率最高（68%，95%CI = 32 - 90）。在IEI患者中观察到的最常见眼部表现是影响眼球运动的表现，其次是涉及眼前段、眼后段、眼睑和附属结构的表现。
这些结果突出了IEI患者眼部受累的重大负担，主要发生在儿童期且与致弱视因素有关。因此，眼科医生、儿科医生和免疫学家必须参与早期检测，以预防眼部并发症和整体健康问题。
