New England Eye Center, Tufts Medical Center, Tufts University School of Medicine, 800 Washington St, Box 450, Boston, MA, 02111, USA.
Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA.
J Neurol. 2017 Dec;264(12):2431-2435. doi: 10.1007/s00415-017-8645-2. Epub 2017 Oct 23.
Varying degrees of optic neuropathy can be seen in patients with Charcot-Marie-Tooth (CMT) disease. To define and characterize the extent of optic neuropathy in patients with CMT2A and CMT1A, two patients from both sub-classifications were evaluated. All patients underwent complete neuro-ophthalmic examinations, and optical coherence (OCT) measurements of the retinal nerve fiber layer (RNFL) and ganglion cell layer complex (GCC) were obtained, along with pattern visual evoked potential (VEP) and pattern electroretinogram (ERG) recordings. RNFL thickness measurements were decreased in both patients with CMT2A, and normal in both patients with CMT1A. GCC measurements were decreased in both patients with CMT2A, mildly decreased in one patient with CMT1A and normal in the second CMT1A patient. VEP latencies were delayed in one patient with CMT2A and one patient with CMT1A. VEP latencies were immeasurable in the other CMT2A patient and not obtained in the second CMT1A patient. Pattern ERG P50-N95 amplitudes were decreased in both patients with CMT2A and normal in one patient with CMT1A. The pattern ERG was immeasurable in the second patient with CMT1A. The pattern of RNFL and GCC thinning in CMT2A with optic neuropathy, a subset of HMSN VI, closely resembles that seen in other mitochondrial optic neuropathies.
Charcot-Marie-Tooth (CMT) 病患者可能出现不同程度的视神经病变。为了定义和描述 CMT2A 和 CMT1A 患者视神经病变的程度，对这两种亚型的各两名患者进行了评估。所有患者均接受了完整的神经眼科检查，并对视网膜神经纤维层（RNFL）和神经节细胞层复合体（GCC）进行光学相干（OCT）测量，同时还进行了图形视觉诱发电位（VEP）和图形视网膜电图（ERG）记录。两名 CMT2A 患者的 RNFL 厚度均降低，而两名 CMT1A 患者均正常。两名 CMT2A 患者的 GCC 测量值均降低，一名 CMT1A 患者轻度降低，另一名 CMT1A 患者正常。一名 CMT2A 患者和一名 CMT1A 患者的 VEP 潜伏期延长。另一名 CMT2A 患者的 VEP 潜伏期不可测量，而第二名 CMT1A 患者则未获得 VEP。两名 CMT2A 患者的图形 ERG P50-N95 振幅降低，而一名 CMT1A 患者正常。第二名 CMT1A 患者的图形 ERG 不可测量。CMT2A 伴视神经病变（HMSN VI 的一个亚组）的 RNFL 和 GCC 变薄模式与其他线粒体视神经病变所见非常相似。
