Associated Papers
Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function Correlation.
Bitan J et al.
Investigative Ophthalmology & Visual Science, 2025
40891781 (PubMed )
Supplement: iovs-66-12-4_s009.xlsx › A._Variants_description
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA et al.
Investigative Ophthalmology & Visual Science, 2021
34015078 (PubMed )
Supplement: iovs-62-6-22_s002.pdf
Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.
Tian R et al.
Molecular Vision, 2014
Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1.
Schatz P et al.
Investigative Ophthalmology & Visual Science, 2010
Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy.
Sohn EH et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2009
Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies.
Hartzell HC et al.
Physiological Reviews, 2008
Chloride channel activity of bestrophin mutants associated with mild or late-onset macular degeneration.
Yu K et al.
Investigative Ophthalmology & Visual Science, 2007
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy.
Marchant D et al.
Journal of Medical Genetics, 2007
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