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
Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.
Laich Y et al.
Ophthalmology, 2024
38278445 (PubMed )
Supplement: mmc4.pdf
Atypical Foveal Hypoplasia in Best Disease.
Moret E et al.
Journal of Personalized Medicine, 2023
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
Outer Retinal Alterations Associated With Visual Outcomes in Best Vitelliform Macular Dystrophy.
Augstburger E et al.
American Journal of Ophthalmology, 2019
Unilateral BEST1-Associated Retinopathy.
Arora R et al.
American Journal of Ophthalmology, 2016
Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies.
Hartzell HC et al.
Physiological Reviews, 2008
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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