Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2116649
Abstract: Bestrophinopathies are genetic retinal disorders characterized by variants in the BEST1 gene, formerly named VMD2. They include Best vitelliform macular dystrophy, adult-onset foveomacular vitelliform dystrophy, autosomal recessive bestrophinopathy (ARB), and autosomal dominant vitreoretinochoroidopathy (1). The… read more here.
Keywords: variants best1; best1 gene; associated compound; recessive bestrophinopathy ... See more keywords
Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.
Sign Up to like & getrecommendations! Published in 2023 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2023.2188227
Abstract: BACKGROUND Pathogenic variants in BEST1 can cause autosomal dominant or autosomal recessive dystrophy, typically associated with distinct retinal phenotypes. In heterozygous cases, the disorder is commonly characterized by yellow sub-macular lesions in the early stages,… read more here.
Keywords: phenotype; variants best1; dystrophy; best vitelliform ... See more keywords