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
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
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_s001.pdf
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.
Shah M et al.
Jama Ophthalmology, 2020
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.
Rahman N et al.
The British Journal of Ophthalmology, 2020
Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.
Cohn AC et al.
Eye (london, England), 2011
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