Kaplan Aysin Tuba, Oskan Yalcin Sibel, Sager Safiye Gunes, Türkyılmaz Ayberk, İnan Rahşan
Ophthalmology Department, Kartal Dr. Lutfi Kırdar City Hospital, 34865, Istanbul, Kartal, Turkey.
Pediatric Neurology Department, Kartal Dr. Lutfi Kırdar City Hospital, Istanbul, Turkey.
Int Ophthalmol. 2023 Jan;43(1):333-341. doi: 10.1007/s10792-022-02452-w. Epub 2022 Aug 12.
To evaluate the spectral-domain optical coherence tomography (SD-OCT) findings and pattern visual evoked potential (VEP) in Charcot-Marie-Tooth (CMT) disease.
Seventeen patients with CMT disease and 17 control subjects were included in the study. The patients were divided into two groups according to conduction velocity and inheritance pattern as demyelinating type (CMT 1) and axonal type (CMT 2). The average retinal nerve fiber layer (RNFL) thickness, RNFL thicknesses of all quadrants, and thicknesses of the ganglion cell layer complex (GCC) were measured using SD-OCT. Pattern VEP recordings were evaluated in both groups.
The average and four quadrants of RNFL thicknesses, and superior and inferior GCC thicknesses were significantly thinner in the CMT patients compared with healthy individuals, but there were no statistically significant differences between the CMT groups. There was a significant positive correlation between age and all RNFL and GCC thicknesses in the CMT 2 group and between age and RNFL thickness of the temporal quadrant in the CMT 1 group. P100 latencies were significantly delayed in the CMT groups compared with controls, and there were no significant differences in P100 latencies between the CMT groups (p < 0.001). VEP amplitudes were in normal ranges in the CMT groups.
This study showed that RNFL and GCC thicknesses were significantly reduced and VEP latencies were prolonged in patients with CMT with normal clinical examinations. Our results suggest that optic nerves may be affected more frequently in patients with CMT that is detected in clinical examinations.
评估夏科-马里-图斯（CMT）病的频域光学相干断层扫描（SD-OCT）结果及图形视觉诱发电位（VEP）。
本研究纳入了17例CMT病患者和17名对照者。根据传导速度和遗传模式将患者分为脱髓鞘型（CMT 1）和轴索性（CMT 2）两组。使用SD-OCT测量平均视网膜神经纤维层（RNFL）厚度、所有象限的RNFL厚度以及神经节细胞层复合体（GCC）厚度。对两组进行图形VEP记录评估。
与健康个体相比，CMT病患者的RNFL平均厚度及四个象限的厚度、GCC的上下厚度均显著变薄，但CMT两组之间无统计学显著差异。CMT 2组中年龄与所有RNFL和GCC厚度之间以及CMT 1组中年龄与颞侧象限的RNFL厚度之间存在显著正相关。与对照组相比，CMT组的P100潜伏期显著延迟，CMT两组之间的P100潜伏期无显著差异（p < 0.001）。CMT组的VEP振幅在正常范围内。
本研究表明，临床检查正常的CMT病患者的RNFL和GCC厚度显著降低，VEP潜伏期延长。我们的结果表明，在临床检查中发现的CMT病患者的视神经可能更频繁地受到影响。
