scholarly journals Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy

2021 ◽  
Vol 62 (6) ◽  
pp. 22
Author(s):  
Tyler A. Pfister ◽  
Wadih M. Zein ◽  
Catherine A. Cukras ◽  
Hatice N. Sen ◽  
Ramiro S. Maldonado ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Macular Dystrophy ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy ◽  
Autosomal Recessive Bestrophinopathy

scholarly journals Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population

2018 ◽  
Vol 2018 ◽  
pp. 1-11 ◽  
Author(s):  
Tingting Gao ◽  
Chengqiang Tian ◽  
Qinrui Hu ◽  
Zhiming Liu ◽  
Jimei Zou ◽  
...  
Keyword(s):  
Clinical Diagnosis ◽  
Autosomal Recessive ◽  
Phenotypic Variability ◽  
Macular Dystrophy ◽  
Compound Heterozygous ◽  
Serious Adverse Events ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy ◽  
Autosomal Recessive Bestrophinopathy ◽  
Compound Heterozygous Mutations

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 BEST1 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 PolyPhen-2, SIFT, and MutationTaster 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.

scholarly journals Genetic testing for Best vitelliform macular dystrophy

2017 ◽  
Vol 1 (s1) ◽  
pp. 17-19
Author(s):  
Andi Abeshi ◽  
Alice Bruson ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Francesco Viola ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Macular Dystrophy ◽  
Ophthalmological Examination ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy ◽  
Recessive Transmission

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for Best vitelliform macular dystrophy (BVMD). BVMD is mostly inherited in an autosomal dominant manner (autosomal recessive transmission is rare). The overall prevalence is currently unknown. BVMD is caused by mutations in the BEST1 gene. Clinical diagnosis is based on clinical findings, ophthalmological examination, optical coherence tomography, electrooculography and electroretinography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

PREFERENTIAL HYPERACUITY PERIMETER IN BEST VITELLIFORM MACULAR DYSTROPHY

Retina ◽  
2011 ◽  
Vol 31 (5) ◽  
pp. 959-966 ◽  
Author(s):  
Giuseppe Querques ◽  
Karim Atmani ◽  
Rislie Bouzitou-Mfoumou ◽  
Nicolas Leveziel ◽  
Nathalie Massamba ◽  
...  
Keyword(s):  
Macular Dystrophy ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy

Best Vitelliform Macular Dystrophy (BVMD) is a phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1)

2021 ◽  
pp. 1-11
Author(s):  
Kent W. Small ◽  
Lee M. Jampol ◽  
Benjamin Bakall ◽  
Leslie Small ◽  
Robert Wiggins ◽  
...  
Keyword(s):  
North Carolina ◽  
Macular Dystrophy ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy
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