Feng-Juan Gao1,2,3, Dan-Dan Wang1,2,3, Fang-Yuan Hu1,2,3, Ping Xu1,2,3, Qing Chang1,2,3, Jian-Kang Li4,5, Wei Liu1, Sheng-Hai Zhang1,2,3, Ge-Zhi Xu6,7,8, Ji-Hong Wu9,10,11. 1. Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China. 2. Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China. 3. Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shanghai, China. 4. BGI-Shenzhen, Shenzhen, Guangdong, China. 5. Department of Computer Science, City University of Hong Kong, Kowloon, Hong Kong. 6. Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China. drxugezhi@163.com. 7. Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China. drxugezhi@163.com. 8. Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shanghai, China. drxugezhi@163.com. 9. Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China. jihongwu@fudan.edu.cn. 10. Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China. jihongwu@fudan.edu.cn. 11. Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shanghai, China. jihongwu@fudan.edu.cn.
Abstract
BACKGROUND: To date, certain efforts have been made to investigate the clinical and genetic characteristics of patients with EYS mutations. However, data for Chinese patients are limited. OBJECTIVES: To perform a detailed phenotyping and genetic characterization of 55 Chinese patients with EYS-RD, and to identify risk factors for these clinical data. METHODS: A total of 55 patients with EYS-RD were recruited. Best-corrected visual acuity (BCVA), patient age, age at symptom onset, disease duration, and genetic information were collected. RESULTS: Thirty-six novel variants, three hot mutations of EYS (30.3%, c.6416G>A, c.6557G>A, c.7492G>C) and one hot region (49.06%, Laminin G domains) were identified. In all, 36.84% of the mutations occurred at base G site, and majority of mutations (56.56%) were missense. Late-truncating mutations are significantly more prevalent (41.30%). The mean age of onset was 15.65 ± 14.67 years old; it had no significant correlation with genotype. The average BCVA was 0.73 ± 0.93 LogMAR, and 61.8% of eyes had a BCVA better than 0.52 logMAR. BCVA was positively correlated with disease duration time. The mean MD was 23.18 ± 7.34 dB, MD showed a significant correlation with genotype and age. Cataract was present in 56.45% of patients, and 42.59% of patients showed an absence of pigmentation in the retina. Cataract and hyperpigmentation both showed a significant correlation with age. CONCLUSIONS: EYS-RD is associated with a moderate phenotype with onset around adolescence, but great variability. Our study largely enhances the current knowledge of phenotypic and genotypic characteristics of EYS-RD, which could pave the way for better management of these patients.
BACKGROUND: To date, certain efforts have been made to investigate the clinical and genetic characteristics of patients with EYS mutations. However, data for Chinese patients are limited. OBJECTIVES: To perform a detailed phenotyping and genetic characterization of 55 Chinese patients with EYS-RD, and to identify risk factors for these clinical data. METHODS: A total of 55 patients with EYS-RD were recruited. Best-corrected visual acuity (BCVA), patient age, age at symptom onset, disease duration, and genetic information were collected. RESULTS: Thirty-six novel variants, three hot mutations of EYS (30.3%, c.6416G>A, c.6557G>A, c.7492G>C) and one hot region (49.06%, Laminin G domains) were identified. In all, 36.84% of the mutations occurred at base G site, and majority of mutations (56.56%) were missense. Late-truncating mutations are significantly more prevalent (41.30%). The mean age of onset was 15.65 ± 14.67 years old; it had no significant correlation with genotype. The average BCVA was 0.73 ± 0.93 LogMAR, and 61.8% of eyes had a BCVA better than 0.52 logMAR. BCVA was positively correlated with disease duration time. The mean MD was 23.18 ± 7.34 dB, MD showed a significant correlation with genotype and age. Cataract was present in 56.45% of patients, and 42.59% of patients showed an absence of pigmentation in the retina. Cataract and hyperpigmentation both showed a significant correlation with age. CONCLUSIONS: EYS-RD is associated with a moderate phenotype with onset around adolescence, but great variability. Our study largely enhances the current knowledge of phenotypic and genotypic characteristics of EYS-RD, which could pave the way for better management of these patients.
Authors: Sanne K Verbakel; Ramon A C van Huet; Camiel J F Boon; Anneke I den Hollander; Rob W J Collin; Caroline C W Klaver; Carel B Hoyng; Ronald Roepman; B Jeroen Klevering Journal: Prog Retin Eye Res Date: 2018-03-27 Impact factor: 21.198
Authors: Kaoru Fujinami; Jana Zernant; Ravinder K Chana; Genevieve A Wright; Kazushige Tsunoda; Yoko Ozawa; Kazuo Tsubota; Anthony G Robson; Graham E Holder; Rando Allikmets; Michel Michaelides; Anthony T Moore Journal: Ophthalmology Date: 2014-10-12 Impact factor: 12.079
Authors: Muriël Messchaert; Margo Dona; Sanne Broekman; Theo A Peters; Julio C Corral-Serrano; Ralph W N Slijkerman; Erwin van Wijk; Rob W J Collin Journal: PLoS One Date: 2018-07-27 Impact factor: 3.240