| Title | Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population |
| Authors | Gao, Tingting Tian, Chengqiang Hu, Qinrui Liu, Zhiming Zou, Jimei Huang, Lvzhen Zhao, Mingwei |
| Affiliation | Peking Univ, Coll Optometry, Hlth Sci Ctr,Beijing Key Lab Diag & Therapy Retin, Dept Ophthalmol,Peoples Hosp,Eye Dis & Optometry, Beijing, Peoples R China. Dalian Med Univ, Affiliated Hosp 1, Dept Ophthalmol, Dalian, Peoples R China. Chinese Peoples Liberat Army 59th Hosp, Beijing, Peoples R China. |
| Keywords | BEST-DISEASE VMD2 GENE DEGENERATION CHANNELS SPECTRUM PROTEIN VARIANT FAMILY COHORT MODEL |
| Issue Date | 2018 |
| Publisher | BIOMED RESEARCH INTERNATIONAL |
| Citation | BIOMED RESEARCH INTERNATIONAL. 2018. |
| Abstract | Mutations in the gene BEST1 usually cause bestrophinopathies, such as the rare progressive diseases Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB). This study aimed to investigate the clinical characteristics of patients with BVMD or ARB carrying BESTI mutations. A total of 12 probands including 9 patients with a clinical diagnosis of BVMD and 3 patients with a clinical diagnosis of ARB were recruited for genetics analysis. All patients underwent detailed ophthalmic examination. All coding exons of the BEST1 gene were screened by PCR- based DNA sequencing. Programs of PolyPhen2, SIFT, and Mutation Taster were used to analyze the potential pathogenicity of the mutations in BEST1. In the 9 unrelated patients with BVMD, one heterozygous BEST1 mutation was revealed in 8 patients and two compound heterozygous mutations in 1 patient. In the 3 unrelated patients with ARB, two compound heterozygous mutations were revealed in 2 patients and three compound heterozygous mutations in 1 patient. Molecular analyses identified a total of 15 mutations, including 3 novel mutations (c.424A>G p.S142G, c.436G>A p.A146T, and c.155T>C p.L52P). Antivascular endothelial growth factor (VEGF) drugs were given to two affected eyes, especially those also exhibiting choroidal neovascularization (CNV), and no serious adverse events occurred. Our study indicates that there is wide genotypic and phenotypic variability in patients with BVMD or ARB in China. The screening of BEST1 gene is significant for the precise diagnosis of BVMD and ARB. |
| URI | http://hdl.handle.net/20.500.11897/568450 |
| ISSN | 2314-6133 |
| DOI | 10.1155/2018/4582816 |
| Indexed | SCI(E) Medline |
| Appears in Collections: | 人民医院 |
