ArticleMolecular vision2011
Clinical evaluation of two consanguineous families with homozygous mutations in BEST1.
Article in Molecular vision, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 26 citations in OpenAlex.
- Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.Acta ophthalmologica · 2022Article
- Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.Investigative ophthalmology & visual science · 2021Article
- Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients.Scientific reports · 2018Article
- Bestrophinopathy: An RPE-photoreceptor interface disease.Progress in retinal and eye research · 2017Review
- Bestrophin 1 and retinal disease.Progress in retinal and eye research · 2017Review
- Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.Documenta ophthalmologica. Advances in ophthalmology · 2016Article
- Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2016Observational
- New best1 mutations in autosomal recessive bestrophinopathy.Retina (Philadelphia, Pa.) · 2015Article
- Autosomal recessive bestrophinopathy associated with angle-closure glaucoma.Documenta ophthalmologica. Advances in ophthalmology · 2014Article
- Choroidal neovascularization secondary to Best's vitelliform macular dystrophy in two siblings of a Malay family.Clinical ophthalmology (Auckland, N.Z.) · 2014Article
- Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.Molecular vision · 2014Article
- Association of Optic Nerve Head Drusen with Best Vitelliform Macular Dystrophy: A Case Series.Case reports in ophthalmologyArticle
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo describe the clinical and genetic findings in two consanguineous families with Best vitelliform macular dystrophy (BVMD) and homozygous mutations in the bestrophin-1 (BEST1) gene.
methodsOphthalmologic examination was performed in eight members of two families originating from Spain and Denmark. Mutation screening was performed using the Vitelliform Macular Dystrophy mutation array from Asper Biotech, and by the directed genomic sequencing of BEST1.
resultsTwo homozygous mutations were detected in these families. Mutation c.936C>A (p.Asp312Glu) has been reported previously in a Danish family; here, we describe four additional individuals in this family demonstrating findings compatible with a severe dominant BVMD, albeit with reduced penetrance in heterozygotes. In the Spanish family, a novel homozygous missense mutation in exon 4, c.388 C>A (p.Arg130Ser), was identified in the siblings. Homozygous siblings demonstrated evidence of multifocal vitelliform retinopathy, whereas heterozygous family members presented findings ranging from isolated reduction of the electrooculogram Arden ratio to normal values on all clinical parameters.
conclusionsAs demonstrated in these consanguineous families, a great clinical variability is associated with homozygous mutations in BEST1, ranging from severe dominant BVMD with reduced penetrance in heterozygotes to autosomal recessive bestrophinopathy.
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Identifiers
21738390PMC3123162W1827034313What OpenQuestion holds
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