Associated Papers
Clinical and genetic characterization of BEST1-associated retinal dystrophies in the Norwegian population.
Sæther E et al.
Acta Ophthalmologica, 2026
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
Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population.
Beryozkin A et al.
Investigative Ophthalmology & Visual Science, 2024
Paradoxical autosomal recessive bestrophinopathy-like phenotypes shown in an autosomal dominant pedigree.
Hu F et al.
European Journal of Ophthalmology, 2023
Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.
Zhu J et al.
Genes, 2022
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA et al.
Investigative Ophthalmology & Visual Science, 2021
Stargardt disease masquerades.
Ricca AM et al.
Current Opinion in Ophthalmology, 2021
Outer Retinal Alterations Associated With Visual Outcomes in Best Vitelliform Macular Dystrophy.
Augstburger E et al.
American Journal of Ophthalmology, 2019
Clinical and genetic heterogeneity in Slovenian patients with BEST disease.
Glavač D et al.
Acta Ophthalmologica, 2016
Unilateral BEST1-Associated Retinopathy.
Arora R et al.
American Journal of Ophthalmology, 2016
Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy.
Liu J et al.
Ophthalmic Research, 2016
Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy.
Wittström E et al.
Ophthalmic Genetics, 2011
OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations.
Chacon-Camacho OF et al.
Ophthalmic Genetics, 2011
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