Guohong Tian1, Yuhong Chen2,3, Youjia Zhang4, Xinghuai Sun4,5,6. 1. Department of Ophthalmology & Visual Science, Eye & ENT Hospital, Shanghai Medical College, Fudan University, Shanghai, China. valentian99@hotmail.com. 2. Department of Ophthalmology & Visual Science, Eye & ENT Hospital, Shanghai Medical College, Fudan University, Shanghai, China. yuhongchen@fudan.edu.cn. 3. NHC Key Laboratory of Myopia, Chinese Academy of Medical Sciences, and Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, Shanghai, China. yuhongchen@fudan.edu.cn. 4. Department of Ophthalmology & Visual Science, Eye & ENT Hospital, Shanghai Medical College, Fudan University, Shanghai, China. 5. State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Institutes of Brain Science, Fudan University, Shanghai, China. 6. NHC Key Laboratory of Myopia, Chinese Academy of Medical Sciences, and Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, Shanghai, China.
Abstract
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.
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.
Authors: C Toomes; N J Marchbank; D A Mackey; J E Craig; R A Newbury-Ecob; C P Bennett; C J Vize; S P Desai; G C Black; N Patel; M Teimory; A F Markham; C F Inglehearn; A J Churchill Journal: Hum Mol Genet Date: 2001-06-15 Impact factor: 6.150
Authors: Bastien Le Roux; Guy Lenaers; Xavier Zanlonghi; Patrizia Amati-Bonneau; Floris Chabrun; Thomas Foulonneau; Angélique Caignard; Stéphanie Leruez; Philippe Gohier; Vincent Procaccio; Dan Milea; Johan T den Dunnen; Pascal Reynier; Marc Ferré Journal: Orphanet J Rare Dis Date: 2019-09-10 Impact factor: 4.123