Leber遗传性视神经病变转化过程中黄斑神经节细胞的初始改变。

IF 2 4区 医学 Q3 CLINICAL NEUROLOGY
Thomas R Hedges, David Dombrovsky, Oluchukwu Onwuka, Laurel N Vuong, Yosbelkys Martin-Paez, Carlos Mendoza-Santiesteban
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引用次数: 0

摘要

背景:我们研究了一组Leber遗传性视神经病变(LHON)患者从正常视力转变为视力丧失过程中黄斑神经节细胞复合体(GCC)的初始变化。方法:对10例遗传性LHON患者17只眼在视力症状出现12周内的光学相干断层扫描结果进行分析。在6个黄斑区域测量GCC的厚度:上鼻(SN)、下鼻(in)、颞上、颞下(IT)、上(SUP)和下(INF)。采用受试者工作特征(ROC)曲线和ROC曲线下面积(AUROC)分析和DeLong比较来评估GCC细化在各扇区的预测可靠性。结果:大多数LHON眼部早期出现选择性鼻部(凹周)GCC变薄,其中SN和in区AUROC值最高。与其他部门相比,这些部门的细化对LHON的存在提供了更大的预测价值。结论:鼻GCC变薄是LHON从正常视力转变为视力丧失的可靠早期指标,17只眼中有10只证实了这一点。这种GCC丢失的模式提供了对疾病机制的深入了解,并强调了OCT分析在早期诊断中的实用性。鼻GCC缺失提示LHON中服务于中央凹区的神经节细胞的选择性易损性。随着基因治疗和其他治疗方法的日益普及,早期识别鼻GCC变化可能有助于及时干预。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Initial Macular Ganglion Cell Changes During Conversion of Leber Hereditary Optic Neuropathy.

Background: We investigated the initial macular ganglion cell complex (GCC) changes in a group of patients during the conversion from normal vision to visual loss from Leber hereditary optic neuropathy (LHON).

Methods: Optical coherence tomography scans from 17 eyes of 10 patients with genetically confirmed LHON obtained within 12 weeks of visual symptom onset were analyzed. The thickness of the GCC was measured in 6 macular sectors: superior nasal (SN), inferior nasal (IN), superior temporal, inferior temporal (IT), superior (SUP), and inferior (INF). Receiver operating characteristic (ROC) curves and area under the ROC curve (AUROC) analyses with DeLong comparison were used to evaluate the predictive reliability of GCC thinning in each sector.

Results: Selective, nasal (perifoveal) GCC thinning was observed in most LHON eyes during the early stages, with the SN and IN sectors showing the highest AUROC values. Thinning in these sectors provided significantly greater predictive value for the presence of LHON than other sectors.

Conclusions: Nasal GCC thinning is a reliable early indicator of the conversion from normal vision to visual loss in LHON as demonstrated in 10 of 17 eyes. This pattern of GCC loss provides insights into the disease mechanism and highlights the utility of OCT analysis for early diagnosis. The nasal GCC loss suggests selective vulnerability of ganglion cells serving the foveal region in LHON. Early identification of nasal GCC changes may facilitate timely intervention as gene therapy and other treatments become increasingly accessible.

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来源期刊
Journal of Neuro-Ophthalmology
Journal of Neuro-Ophthalmology 医学-临床神经学
CiteScore
2.80
自引率
13.80%
发文量
593
审稿时长
6-12 weeks
期刊介绍: The Journal of Neuro-Ophthalmology (JNO) is the official journal of the North American Neuro-Ophthalmology Society (NANOS). It is a quarterly, peer-reviewed journal that publishes original and commissioned articles related to neuro-ophthalmology.
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