Associated Papers
Autosomal Recessive Bestrophinopathy-Phenotypic Variability, Natural History, and Genotype-Phenotype Correlations.
Bianco L et al.
American Journal of Ophthalmology, 2025
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
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › solved_patients
Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.
Dhoble P et al.
Ophthalmic Genetics, 2024
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
Nachtigal AL et al.
International Journal of Molecular Sciences, 2020
32111077 (PubMed )
Supplement: ijms-21-01597-s001.pdf
Bestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies.
Pasquay C et al.
Ophthalmic Genetics, 2015
Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.
Johnson AA et al.
Experimental Eye Research, 2014
Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy.
Cascavilla ML et al.
Ophthalmic Research, 2012
Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients.
Sodi A et al.
Molecular Vision, 2011
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