Articles with "bestrophinopathy" as a keyword



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Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy

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Published in 2022 at "Genes"

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