Heterozygote MTHFR A1298C mutation in a case of autosomal recessive bestrophinopathy with branch retinal vein occlusion
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2042701
Abstract: Autosomal recessive bestrophinopathy is a rare disease caused by mutations of the BEST1 gene. Clinical findings of this disease include solitary or multifocal vitelliform lesions, subretinal and intraretinal fluids, RPE irregularities, hyperopia, and shallow anterior… read more here.
Keywords: recessive bestrophinopathy; occlusion; case; autosomal recessive ... See more keywords
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
Paradoxical autosomal recessive bestrophinopathy-like phenotypes shown in an autosomal dominant pedigree.
Sign Up to like & getrecommendations! Published in 2023 at "European journal of ophthalmology"
DOI: 10.1177/11206721231167767
Abstract: PURPOSE This study aimed to evaluate the clinical and genetic characteristics of eight members from a Chinese Han family who displayed autosomal recessive bestrophinopathy (ARB)-like retinal changes in autosomal dominant (AD) inheritance pattern. METHODS Clinical… read more here.
Keywords: paradoxical autosomal; recessive bestrophinopathy; autosomal dominant; bestrophinopathy like ... See more keywords
Pathogenic role of the vitreous in angle-closure glaucoma with autosomal recessive bestrophinopathy: a case report
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DOI: 10.1186/s12886-020-01543-5
Abstract: Background Autosomal recessive bestrophinopathy (ARB) is caused by homozygous or compound heterozygous mutations in the BEST1 gene and always accompanied with refractory angle-closure glaucoma (ACG). The exact mechanism for the pan-ocular abnormalities in ARB is… read more here.
Keywords: recessive bestrophinopathy; closure glaucoma; closure; case ... See more keywords
Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy
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DOI: 10.3390/genes13071197
Abstract: Autosomal recessive bestrophinopathy (ARB) is a rare subtype of bestrophinopathy caused by biallelic mutations of the BEST1 gene. ARB is characterized by multifocal subretinal deposits accompanied by macular edema or subretinal fluid, hyperopia, co-existing narrow… read more here.
Keywords: features genetic; recessive bestrophinopathy; fluid; bestrophinopathy ... See more keywords