Langwińska-Wośko Ewa, Litwin Tomasz, Dzieżyc Karolina, Karlinski Michał, Członkowska Anna
Department of Ophthalmology, Medical University of Warsaw, Warsaw, Poland.
2nd Department of Neurology, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957, Warsaw, Poland.
Acta Neurol Belg. 2017 Dec;117(4):867-871. doi: 10.1007/s13760-017-0788-5. Epub 2017 May 9.
Wilson's disease (WD) is an inherited autosomal recessive disorder that leads to pathological copper accumulation in different organs. Optical coherence tomography (OCT) is proposed as a marker of neurodegeneration in many neurological diseases. Thinning of the total retinal nerve fiber layer (RNFL) and macular thickness (Mth) examined by OCT was detected in patients with WD, especially those with brain magnetic resonance imaging changes. The aim of this study was to evaluate the relationship between OCT parameters and the progression of neurological signs measured by the Unified Wilson's Disease Rating Scale (UWDRS) in patients with WD. Consecutive patients with WD admitted to the Department of Neurology underwent OCT to assess the thickness of the macula and total RNFL. Patients also had neurologic assessments according to the UWDRS part III. Patients were divided into two groups based on the presence (UWDRS+) and absence (UWDRS-) of neurological symptoms. Fifty-eight patients (34 females, 24 males) were enrolled. Mean duration of treatment was 9 years (standard deviation [SD], ±10.8). The mean UWDRS score at the time of study was 8.4 (range 1-52; SD ±13.9) points. Total RNFL as well as macula thickness were significantly decreased in the UWDRS+ group versus the UWDRS- group. A significant negative correlation was found between OCT parameters (RNFL and Mth measurements) and neurological impairment according the UWDRS scale. This study confirms that OCT may be a useful tool for measuring the degree of neurodegeneration in patients with WD, and may play role in monitoring disease progression.
威尔逊病（WD）是一种常染色体隐性遗传疾病，可导致不同器官出现病理性铜蓄积。光学相干断层扫描（OCT）被提议作为多种神经疾病中神经退行性变的一个标志物。通过OCT检测发现，WD患者存在视网膜神经纤维层（RNFL）总厚度和黄斑厚度（Mth）变薄的情况，尤其是那些有脑磁共振成像改变的患者。本研究的目的是评估WD患者中OCT参数与通过统一威尔逊病评定量表（UWDRS）测量的神经体征进展之间的关系。连续入住神经内科的WD患者接受OCT检查以评估黄斑和RNFL总厚度。患者还根据UWDRS第三部分进行了神经学评估。根据是否存在神经症状，将患者分为两组（UWDRS +组和UWDRS -组）。共纳入58例患者（34例女性，24例男性）。平均治疗时间为9年（标准差[SD]，±10.8）。研究时的平均UWDRS评分为8.4分（范围1 - 52；SD±13.9）。与UWDRS -组相比，UWDRS +组的RNFL总厚度以及黄斑厚度均显著降低。根据UWDRS量表，发现OCT参数（RNFL和Mth测量值）与神经功能损害之间存在显著负相关。本研究证实，OCT可能是测量WD患者神经退行性变程度的有用工具，并可能在监测疾病进展中发挥作用。
