Comparison of the clinical and genetic features of autosomal dominant optic atrophy and normal tension glaucoma in young Chinese adults

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. Results 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. Conclusions 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.