University of Health Sciences, Kartal Dr. Lütfi Kırdar City Hospital, Department of Ophthalmology, İstanbul, Turkey; Istanbul University Institute Of Graduate Studies İn Health Sciences, Advanced Neurologıcal Scıences, İstanbul, Turkey.
University of Health Sciences, Kartal Dr. Lütfi Kırdar City Hospital, Department of Pediatrics, İstanbul, Turkey.
Photodiagnosis Photodyn Ther. 2023 Sep;43:103680. doi: 10.1016/j.pdpdt.2023.103680. Epub 2023 Jun 30.
The aim of this study is to comparatively evaluate the posterior segment ocular parameters of Familial Mediterranean fever (FMF) patients, asymptomatic FMF carriers, and the healthy controls in the pediatric age group.
The study included 30 FMF patients with homozygous M694V mutation in remission under colchicine therapy, 12 asymptomatic FMF carriers with heterozygous M694V mutation, and 41 age-sex-matched healthy controls. All patients underwent detailed eye examination, and peripapillary retinal nerve fiber layer (pRNFL) thickness, central macular thickness (CMT), subfoveal choroidal thickness (SCT), macular vascular densities, and foveal avascular zone (FAZ) areas were measured using swept-source optical coherence tomography angiography.
In this study, the mean pRNFL thickness was statistically significantly thinner (p = 0.010) in the FMF patients group compared to the FMF carriers group and the healthy control group, especially in the inferior quadrant of pRNFL (p = 0.042). The CMT in asymptomatic FMF carriers group was statistically significantly thicker than in FMF patients group (p = 0.037), especially the superior and inferior quadrants of macula were affected (p = 0.024; p = 0.020, respectively). In addition, this study showed that the changes of pRNFL thickness and CMT in pediatric patients with FMF were moderately correlated with the duration of diagnosis. There was no significant difference between the groups in terms of macular vascular densities and FAZ values.
FMF is a hereditary autoinflammatory disease that causes multi-organ involvement, and this study showed that posterior segment ocular parameters could be affected not only in FMF patients but also in asymptomatic FMF carriers.
本研究旨在比较评价儿童期家族性地中海热（FMF）患者、无症状 FMF 携带者和健康对照者的后段眼部参数。
本研究纳入 30 例接受秋水仙碱治疗缓解期的纯合 M694V 突变 FMF 患者、12 例杂合 M694V 突变无症状 FMF 携带者和 41 例年龄、性别匹配的健康对照者。所有患者均行详细眼部检查，应用扫频源光学相干断层血管造影术测量视盘周围视网膜神经纤维层（pRNFL）厚度、中央黄斑厚度（CMT）、黄斑中心凹下脉络膜厚度（SCT）、黄斑血管密度和黄斑无血管区（FAZ）面积。
本研究中，FMF 患者组的平均 pRNFL 厚度明显比 FMF 携带者组和健康对照组薄（p=0.010），尤其是在下象限 pRNFL（p=0.042）。无症状 FMF 携带者组的 CMT 明显比 FMF 患者组厚（p=0.037），尤其是黄斑的上、下象限受到影响（p=0.024；p=0.020）。此外，本研究表明，FMF 儿科患者的 pRNFL 厚度和 CMT 变化与诊断时间呈中度相关。各组间黄斑血管密度和 FAZ 值无显著差异。
FMF 是一种遗传性自身炎症性疾病，可导致多器官受累，本研究表明，后段眼部参数不仅可在 FMF 患者中受到影响，而且在无症状 FMF 携带者中也可受到影响。
