Yi Xuan1, Youjia Zhang2, Yuan Zong1, Min Wang1, Lei Li1, Xiaofeng Ye1, Wei Liu1, Junyi Chen2, Xinghuai Sun3, Yongjin Zhang1, Yuhong Chen4. 1. Department of Ophthalmology & Visual Science, Eye and ENT Hospital, Shanghai Medical College, Fudan University, Shanghai, China; Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, Shanghai, China. 2. Department of Ophthalmology & Visual Science, Eye and ENT Hospital, Shanghai Medical College, Fudan University, Shanghai, China; Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, Shanghai, China; NHC Key Laboratory of Myopia, Fudan University, Chinese Academy of Medical Sciences, Shanghai, China. 3. Department of Ophthalmology & Visual Science, Eye and ENT Hospital, Shanghai Medical College, Fudan University, Shanghai, China; Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, Shanghai, China; NHC Key Laboratory of Myopia, Fudan University, Chinese Academy of Medical Sciences, Shanghai, China; State Key Laboratory of Medical Neurobiology, Institutes of Brain Science and Collaborative Innovation Center for Brain Science, Fudan University, Shanghai, China. 4. Department of Ophthalmology & Visual Science, Eye and ENT Hospital, Shanghai Medical College, Fudan University, Shanghai, China; Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, Shanghai, China; NHC Key Laboratory of Myopia, Fudan University, Chinese Academy of Medical Sciences, Shanghai, China. Electronic address: yuhongchen@fudan.edu.cn.
Abstract
PURPOSE: To provide the clinical and genetic characteristics of a large cohort of Chinese patients with vitelliform macular dystrophies. DESIGN: Cross-sectional study. METHODS: One hundred and thirty-four unrelated Chinese patients diagnosed with Best vitelliform macular dystrophy (BVMD), autosomal recessive bestrophinopathy (ARB) or adult vitelliform macular dystrophy (AVMD) were enrolled. Detailed ophthalmic examinations and genetic testing on vitelliform macular dystrophies-related genes were performed. Genotype and phenotype association was analyzed among different diagnostic groups. RESULTS: In total, 87 BVMD, 30 AVMD and 17 ARB were enrolled in this study. Genetic analysis identified 37 BEST1 mutations in 53 patients with BVMD and ARB. Of these, 5 variants (c.254A>G, c.291C>G, c.722C>G, c.848_850del, c.1740-2A>C) were novel. The variant c.898G>A was a hotspot mutation, which was identified in 13 patients with BVMD and 1 patient with ARB. There were significant differences of ocular biometric parameters among patients with homozygous or compound heterozygous mutations, heterozygous mutations, and those without mutations of BEST1. Homozygous or compound heterozygous patients had shortest ALs, shallowest ACDs, and highest IOPs; patients without mutations had longest ALs, deepest ACDs and lowest IOPs; and heterozygous patients were in between. Moreover, seven patients harboring heterozygous mutations in BEST1 and 3 patients without BEST1 mutations showed similar clinical appearance to ARB in our cohort. CONCLUSIONS: This is the largest sample size study of Chinese vitelliform macular dystrophies patients. Our results indicated that assessment of angle-closure risk is a necessary consideration for all types of BEST1-related vitelliform macular dystrophies. The study expanded both the clinical and genetic findings of three common types of vitelliform macular dystrophies in a Chinese population.
PURPOSE: To provide the clinical and genetic characteristics of a large cohort of Chinese patients with vitelliform macular dystrophies. DESIGN: Cross-sectional study. METHODS: One hundred and thirty-four unrelated Chinese patients diagnosed with Best vitelliform macular dystrophy (BVMD), autosomal recessive bestrophinopathy (ARB) or adult vitelliform macular dystrophy (AVMD) were enrolled. Detailed ophthalmic examinations and genetic testing on vitelliform macular dystrophies-related genes were performed. Genotype and phenotype association was analyzed among different diagnostic groups. RESULTS: In total, 87 BVMD, 30 AVMD and 17 ARB were enrolled in this study. Genetic analysis identified 37 BEST1 mutations in 53 patients with BVMD and ARB. Of these, 5 variants (c.254A>G, c.291C>G, c.722C>G, c.848_850del, c.1740-2A>C) were novel. The variant c.898G>A was a hotspot mutation, which was identified in 13 patients with BVMD and 1 patient with ARB. There were significant differences of ocular biometric parameters among patients with homozygous or compound heterozygous mutations, heterozygous mutations, and those without mutations of BEST1. Homozygous or compound heterozygous patients had shortest ALs, shallowest ACDs, and highest IOPs; patients without mutations had longest ALs, deepest ACDs and lowest IOPs; and heterozygous patients were in between. Moreover, seven patients harboring heterozygous mutations in BEST1 and 3patients without BEST1 mutations showed similar clinical appearance to ARB in our cohort. CONCLUSIONS: This is the largest sample size study of Chinese vitelliform macular dystrophiespatients. Our results indicated that assessment of angle-closure risk is a necessary consideration for all types of BEST1-related vitelliform macular dystrophies. The study expanded both the clinical and genetic findings of three common types of vitelliform macular dystrophies in a Chinese population.