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Leber 遗传性视神经病变患者视盘周围视网膜神经纤维层厚度变化的临床随访研究。

Clinical follow-up investigation on thickness changes in the peripapillary retinal nerve fibre layer of patients with Leber hereditary optic neuropathy.

机构信息

Department of Ophthalmology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Eye Center, Renmin Hospital of Wuhan University, Wuhan, China.

出版信息

BMC Ophthalmol. 2024 Aug 15;24(1):348. doi: 10.1186/s12886-024-03625-0.

DOI:10.1186/s12886-024-03625-0
PMID:39148060
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11328356/
Abstract

BACKGROUND

To investigate the peripapillary retinal nerve fibre layer (RNFL) thickness changes and analyse factors associated with visual recovery of G11778A Leber hereditary optic neuropathy (LHON) patients.

METHODS

Patients diagnosed with G11778A LHON between July 2017 and December 2020 in Tongji hospital were included in this follow-up study. Patients were grouped according to disease duration. Variations in the RNFL thickness in each quadrant at different disease stages were characterised using optical coherence tomography. According to the absence or presence of significant visual acuity improvements, LHON patients of disease duration ≥ 6 months were divided into two groups. A bivariate logistic regression model was constructed to analyse the potential factors associated with spontaneous visual recovery.

RESULTS

This study included 56 G11778A LHON patients (112 eyes) and 25 healthy controls (50 eyes), with a mean follow-up of 5.25 ± 1.42 months. All quadrants and mean RNFL thicknesses of LHON patients first increased and then decreased, except for the temporal RNFL. As the disease progressed, RNFL thinning slowed; however, gradual RNFL thinning occurred. Logistic regression revealed that baseline best corrected visual acuity was related to spontaneous visual recovery of LHON patients with disease duration ≥ 6 months.

CONCLUSION

The pattern of RNFL involvement could be helpful in the differential diagnosis of LHON and other optic neuropathies. LHON patients with better vision are more likely to experience some degree of spontaneous visual acuity recovery after the subacute phase.

摘要

背景

研究目的是探讨 G11778A 型 Leber 遗传性视神经病变(LHON)患者视盘周围视网膜神经纤维层(RNFL)厚度变化,并分析与视觉恢复相关的因素。

方法

本随访研究纳入了 2017 年 7 月至 2020 年 12 月期间在同济医院确诊为 G11778A LHON 的患者。根据疾病持续时间将患者分组。采用光学相干断层扫描(OCT)分析不同疾病阶段各象限 RNFL 厚度的变化。根据视力是否有明显改善,将疾病持续时间≥6 个月的 LHON 患者分为两组。采用二元逻辑回归模型分析与自发性视觉恢复相关的潜在因素。

结果

本研究共纳入 56 例 G11778A LHON 患者(112 只眼)和 25 名健康对照者(50 只眼),平均随访时间为 5.25±1.42 个月。所有象限和平均 RNFL 厚度的 LHON 患者均先增加后减少,除了颞侧 RNFL。随着疾病的进展,RNFL 变薄速度减慢;然而,仍逐渐变薄。逻辑回归显示,基线最佳矫正视力与疾病持续时间≥6 个月的 LHON 患者的自发性视觉恢复有关。

结论

RNFL 受累模式有助于 LHON 与其他视神经病变的鉴别诊断。在亚急性期后,视力较好的 LHON 患者更有可能出现一定程度的自发性视力恢复。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8477/11328356/9b68b135fc9b/12886_2024_3625_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8477/11328356/b8a771ff6dc8/12886_2024_3625_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8477/11328356/9b68b135fc9b/12886_2024_3625_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8477/11328356/b8a771ff6dc8/12886_2024_3625_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8477/11328356/9b68b135fc9b/12886_2024_3625_Fig2_HTML.jpg

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本文引用的文献

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Seven-Year Follow-up of Gene Therapy for Leber's Hereditary Optic Neuropathy.莱伯遗传性视神经病变基因治疗的七年随访
Ophthalmology. 2020 Aug;127(8):1125-1127. doi: 10.1016/j.ophtha.2020.02.023. Epub 2020 Feb 25.
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