Oeverhaus Michael, Knetsch Mareile, Chen Ying, Jabbarli Leyla, Nolden Carmen, Eckstein Anja, Bechrakis Nikolaos E, Rating Philipp
Department of Ophthalmology, University Hospital Essen, Essen, Germany.
Medical Practice Dres. Oeverhaus, Rietberg, Germany.
BMC Ophthalmol. 2025 Apr 8;25(1):183. doi: 10.1186/s12886-025-03991-3.
LHON leads to gradual, painless, and permanent vision loss in both eyes, often associated with central scotomas. As the condition progresses, there is a decline in visual function, accompanied by noticeable structural alterations. This study focused on evaluating the clinical characteristics of patients with differing LHON stages, with a specific emphasis on optical coherence tomography (OCT) imaging results.
This analysis included 22 individuals with LHON. Patients underwent thorough clinical ophthalmologic assessments, including SD-OCT, Visual evoked potentials, and perimetry. When LHON was suspected, blood samples were obtained to test for the three major mitochondrial mutations (G1178A, T14484C, G3460A), with further sequencing to identify additional known mutations. The data were subsequently examined through descriptive statistical methods.
The clinical characteristics of 22 individuals (median age 33, range 9-68) were examined. All participants carried a mutation linked to LHON. The most prevalent mutation was G11778A (55%), followed by G3460A (23%), T14484C (14%), with one instance each of the rare G13042A and C3461T mutations. Fourteen participants experienced acute vision loss (average duration: 5.2 ± 5 months), while eight had chronic LHON. There was no significant difference in visual acuity (VA, logMAR) between the two groups (0.9 vs. 0.9, p = 0.91). However, chronic patients exhibited significantly reduced the retinal nerve fiber layer (RNFL), especially in the temporal region (32 μm vs. 56 μm, p < 0.0001), but not in the nasal region. Ganglion cell layer (GCL) thickness was also notably thinner in the temporal area for chronic patients compared to those with acute LHON (22 μm vs. 28 μm, p = 0.04). Linear regression analysis showed correlations between RNFL and GCL and visual acuity (R² = 0.18, p = 0.007 and R² = 0.1, p = 0.05).
In our analysis, we observed an unusual pattern in the genetic mutations, with G3460A being the second most frequent, rather than T14484C, which may be attributed to the limited sample size. 14 patients experienced acute or subacute vision loss, while eight were assessed for chronic disease. Those with chronic LHON demonstrated significantly thinner GCL and RNFL. These results underscore the importance of accelerating both diagnosis and treatment to facilitate prompt intervention for patients.
Leber遗传性视神经病变（LHON）会导致双眼逐渐、无痛且永久性的视力丧失，常伴有中心暗点。随着病情发展，视觉功能会下降，并伴有明显的结构改变。本研究着重评估不同LHON阶段患者的临床特征，特别关注光学相干断层扫描（OCT）成像结果。
该分析纳入了22例LHON患者。患者接受了全面的临床眼科评估，包括频域光学相干断层扫描（SD - OCT）、视觉诱发电位和视野检查。当怀疑为LHON时，采集血样检测三种主要的线粒体突变（G1178A、T14484C、G3460A），并进一步测序以确定其他已知突变。随后通过描述性统计方法对数据进行检查。
对22例患者（中位年龄33岁，范围9 - 68岁）的临床特征进行了检查。所有参与者都携带与LHON相关的突变。最常见的突变是G11778A（55%），其次是G3460A（23%）、T14484C（14%），还有罕见的G13042A和C3461T突变各1例。14名参与者经历了急性视力丧失（平均持续时间：5.2±5个月），而8例为慢性LHON。两组之间的视力（VA，对数最小分辨角视力）无显著差异（0.9对0.9，p = 0.91）。然而，慢性病患者的视网膜神经纤维层（RNFL）明显变薄，尤其是在颞侧区域（32μm对56μm，p < 0.0001），但鼻侧区域没有。与急性LHON患者相比，慢性病患者颞侧区域的神经节细胞层（GCL）厚度也明显更薄（22μm对28μm，p = 0.04）。线性回归分析显示RNFL和GCL与视力之间存在相关性（R² = 0.18，p = 0.007和R² = 0.1，p = 0.05）。
在我们的分析中，我们观察到基因突变存在异常模式，G3460A是第二常见的，而非T14484C，这可能归因于样本量有限。14例患者经历了急性或亚急性视力丧失，8例被评估为慢性病。慢性LHON患者的GCL和RNFL明显更薄。这些结果强调了加快诊断和治疗以促进对患者及时干预的重要性。
