Sosa Anna, O'Neill Kimberly A, Jauregui Ruben, Nwigwe Ugo, Billiet Thibo, Kenney Rachel, Krupp Lauren B, Galetta Steven L, Balcer Laura J, Grossman Scott N
Department of Neurology, NYU Grossman School of Medicine, NY.
Icometrix, Leuven, Belgium.
Neurol Neuroimmunol Neuroinflamm. 2025 Nov;12(6):e200480. doi: 10.1212/NXI.0000000000200480. Epub 2025 Sep 9.
While reductions in optical coherence tomography (OCT) pRNFL and ganglion cell-inner plexiform layer thicknesses have been shown to be associated with brain atrophy in adult-onset MS (AOMS) cohorts, the relationship between OCT and brain MRI measures is less established in pediatric-onset MS (POMS). Our aim was to examine the associations of OCT measures with volumetric MRI in a cohort of patients with POMS to determine whether OCT measures reflect CNS neurodegeneration in this patient population, as is seen in AOMS cohorts.
This was a cross-sectional study with retrospective ascertainment of patients with POMS evaluated at a single center with expertise in POMS and neuro-ophthalmology. As part of routine clinical care, patients with POMS are evaluated by a POMS expert and undergo volumetric brain MRI, including whole-brain (WB), subregional, and gray matter (GM) volume analyses. Patients with POMS are routinely referred to neuro-ophthalmology for evaluation that includes high-contrast visual acuity, color vision testing, and OCT. Generalized estimating equation (GEE) models, accounting for within-patient, intereye correlations (both eyes of each patient were included), MS disease duration, and disease-modifying therapy efficacy, were used to determine the relationship between visual pathway structure and function and volumetric MRI measures.
Among 61 patients (122 eyes) with POMS, the mean age at the time of the volumetric MRI scan was 19.2 (SD = 3.7, range 10-27) years, with a median disease duration of 2.8 (range 0-14) years. Lower (worse) pRNFL thicknesses (mean 87.4 [17.2] µm) were associated with reduced volume percentiles of WB ( < 0.001, GEE models), total GM ( = 0.025), and thalamus ( = 0.038). pRNFL thinning was also associated with greater lesion ( = 0.006) and black hole ( = 0.028) volumes. Reduced color vision and decreased high-contrast visual acuity were associated with lower hippocampal volumes ( = 0.012 and = 0.015, respectively).
Our results demonstrate that changes in visual pathway structures are associated with reductions in overall brain volume and GM volumes, as well as greater lesion and black hole burden. Collectively, our results emphasize the importance of visual assessment in POMS and suggest that OCT reflects overall CNS neurodegeneration in this cohort.
虽然在成人发病型多发性硬化症（AOMS）队列研究中，光学相干断层扫描（OCT）显示的视网膜神经纤维层（pRNFL）和神经节细胞-内丛状层厚度的降低与脑萎缩有关，但在儿童发病型多发性硬化症（POMS）中，OCT与脑MRI测量值之间的关系尚不明确。我们的目的是在一组POMS患者中研究OCT测量值与MRI容积测量之间的关联，以确定OCT测量值是否能反映该患者群体中的中枢神经系统神经变性，就像在AOMS队列研究中所看到的那样。
这是一项横断面研究，对在一个具有POMS和神经眼科专业知识的单一中心接受评估的POMS患者进行回顾性确定。作为常规临床护理的一部分，POMS患者由一名POMS专家进行评估，并接受脑容积MRI检查，包括全脑（WB）、亚区域和灰质（GM）容积分析。POMS患者通常会被转诊至神经眼科进行评估，包括高对比度视力、色觉测试和OCT。使用广义估计方程（GEE）模型，考虑患者内、眼间相关性（纳入每位患者的双眼）、MS病程和疾病修饰治疗效果，以确定视觉通路结构和功能与MRI容积测量之间的关系。
在61例（122只眼）POMS患者中，容积MRI扫描时的平均年龄为19.2（标准差 = 3.7，范围10 - 27）岁，疾病持续时间中位数为2.8（范围0 - 14）年。较低（较差）的pRNFL厚度（平均87.4 [17.2] µm）与WB体积百分位数降低（< 0.001，GEE模型）、总GM（= 0.025）和丘脑（= 0.038）相关。pRNFL变薄还与更大的病灶（= 0.006）和黑洞（= 0.028）体积相关。色觉降低和高对比度视力下降与较低的海马体积相关（分别为 = 0.012和 = 0.015）。
我们的结果表明，视觉通路结构的变化与全脑体积和GM体积的减少以及更大的病灶和黑洞负担相关。总体而言，我们的结果强调了POMS中视觉评估的重要性，并表明OCT反映了该队列中的整体中枢神经系统神经变性。
