Petrovic Pajic Sanja, Lapajne Luka, Vratanar Bor, Fakin Ana, Jarc-Vidmar Martina, Sustar Habjan Maja, Volk Marija, Maver Ales, Peterlin Borut, Hawlina Marko
Eye Hospital, University Medical Centre Ljubljana, Grablovičeva ulica 46, 1000 Ljubljana, Slovenia.
Clinic for Eye Diseases, University Clinical Centre of Serbia, Pasterova 2, 11000 Belgrade, Serbia.
J Clin Med. 2022 Oct 13;11(20):6045. doi: 10.3390/jcm11206045.
(1) Background: The purpose of this study was to evaluate the thickness of retinal layers in Leber hereditary optic neuropathy (LHON) in the atrophic stage compared with presumably inherited bilateral optic neuropathy of unknown cause with the aim of seeing if any LHON-specific patterns exist. (2) Methods: 14 patients (24 eyes) with genetically confirmed LHON (LHON group) were compared with 13 patients (23 eyes) with negative genetic testing results (mtDNA + WES) and without identified etiology of bilateral optic atrophy (nonLHON group). Segmentation analysis of retinal layers in the macula and peripapillary RNFL (pRNFL) measurements was performed using Heidelberg Engineering Spectralis SD-OCT. (3) Results: In the LHON group, the thickness of ganglion cell complex (GCC) (retinal nerve fiber layer (RNFL)—ganglion cell layer (GCL)—inner plexiform layer (IPL)) in the central ETDRS (Early Treatment Diabetic Retinopathy Study) circle was significantly higher than in the nonLHON group (p < 0.001). In all other ETDRS fields, GCC was thinner in the LHON group. The peripapillary RNFL (pRNFL) was significantly thinner in the LHON group in the temporal superior region (p = 0.001). Longitudinal analysis of our cohort during the follow-up time showed a tendency of thickening of the RNFL, GCL, and IPL in the LHON group in the central circle, as well as a small recovery of the pRNFL in the temporal region, which corresponds to the observed central macular thickening. (4) Conclusions: In LHON, the retinal ganglion cell complex thickness (RNFL-GCL-IPL) appears to be relatively preserved in the central ETDRS circle compared to nonLHON optic neuropathies in the chronic phase. Our findings may represent novel biomarkers as well as a structural basis for possible recovery in some patients with LHON.
(1) 背景：本研究的目的是评估萎缩期Leber遗传性视神经病变（LHON）患者视网膜各层的厚度，并与病因不明的推测为遗传性双侧视神经病变进行比较，以确定是否存在任何LHON特异性模式。(2) 方法：将14例基因确诊的LHON患者（24只眼）（LHON组）与13例基因检测结果为阴性（线粒体DNA+全外显子组测序）且双侧视神经萎缩病因未明的患者（23只眼）（非LHON组）进行比较。使用海德堡工程公司的Spectralis SD-OCT对黄斑区视网膜各层进行分割分析，并测量视乳头周围视网膜神经纤维层（pRNFL）。(3) 结果：LHON组中，中央早期糖尿病性视网膜病变研究（ETDRS）环内的神经节细胞复合体（GCC）（视网膜神经纤维层（RNFL）-神经节细胞层（GCL）-内网状层（IPL））厚度显著高于非LHON组（p<0.001）。在所有其他ETDRS区域，LHON组的GCC较薄。LHON组颞上区域的视乳头周围视网膜神经纤维层（pRNFL）显著变薄（p=0.001）。对我们队列在随访期间的纵向分析显示，LHON组中央环内的RNFL、GCL和IPL有增厚趋势，颞区的pRNFL也有小幅恢复，这与观察到的黄斑中心增厚情况相符。(4) 结论：与慢性期非LHON视神经病变相比，LHON患者中央ETDRS环内的视网膜神经节细胞复合体厚度（RNFL-GCL-IPL）似乎相对保留。我们的发现可能代表了新的生物标志物，以及部分LHON患者可能恢复的结构基础。
