Department of Ophthalmology & Visual Science, Eye & ENT Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Institutes of Brain Science, Fudan University, Shanghai, China.
Eye (Lond). 2023 Mar;37(4):624-630. doi: 10.1038/s41433-022-01990-y. Epub 2022 Mar 10.
BACKGROUND/OBJECTIVES: To compare the clinical and optical coherence tomography (OCT) characteristics of autosomal dominant optic atrophy (ADOA) and normal tension glaucoma (NTG) in Chinese patients.
SUBJECTS/METHODS: Twenty-four unrelated patients with ADOA and 21 unrelated patients with NTG, younger than 30 years, were enrolled in this study. Data regarding the demographic and clinical characteristics of the patients were collected, and their peripapillary retinal nerve fibre layer (RNFL) and macular ganglion cell complex (GCC) thicknesses were evaluated using OCT. Sequencing of genes associated with neuro-ophthalmic disorders was performed for all patients.
The average age at onset of the ADOA group (13.92 ± 10.73 years) was significantly younger than that of the NTG group (23.67 ± 4.98 years, P = 0.002). Best-corrected visual acuity was significantly poorer in the ADOA group (0.75 ± 0.32) than in the NTG group (0.16 ± 0.19, P < 0.001). The average peripapillary RNFL thickness and the RNFL thicknesses in the temporal upper, temporal lower, and nasal lower sectors were significantly thinner in the ADOA group than in the NTG group (all P < 0.05). Moreover, the macular GCC thickness of the ADOA group was significantly thinner than that of the NTG group (P < 0.001). Twenty-three OPA1 variants (11 novel OPA1 variants) and one OPA3 variant were detected in 24 patients with ADOA.
Our study revealed a distinct difference between the patterns of RNFL and GCC loss in ADOA and NTG, which will help to differentiate ADOA from NTG in young patients. Additionally, this study expanded the genetic spectrum of ADOA.
背景/目的：比较中国人常染色体显性视神经萎缩（ADOA）和正常眼压性青光眼（NTG）的临床和光学相干断层扫描（OCT）特征。
对象/方法：本研究纳入了 24 名无亲缘关系的 ADOA 患者和 21 名无亲缘关系的 NTG 患者，年龄均小于 30 岁。收集患者的人口统计学和临床特征数据，并使用 OCT 评估其视盘周围视网膜神经纤维层（RNFL）和黄斑神经节细胞复合体（GCC）厚度。对所有患者进行与神经眼科疾病相关的基因测序。
ADOA 组的发病年龄（13.92±10.73 岁）显著小于 NTG 组（23.67±4.98 岁，P=0.002）。ADOA 组的最佳矫正视力（0.75±0.32）明显差于 NTG 组（0.16±0.19，P<0.001）。ADOA 组的平均视盘周围 RNFL 厚度和颞上、颞下和鼻下象限的 RNFL 厚度均明显薄于 NTG 组（均 P<0.05）。此外，ADOA 组的黄斑 GCC 厚度明显薄于 NTG 组（P<0.001）。在 24 名 ADOA 患者中检测到 23 种 OPA1 变异（11 种新的 OPA1 变异）和 1 种 OPA3 变异。
我们的研究揭示了 ADOA 和 NTG 之间 RNFL 和 GCC 丢失模式的明显差异，这将有助于在年轻患者中区分 ADOA 和 NTG。此外，本研究扩展了 ADOA 的遗传谱。
