Article

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy

2022-02-28

Abstract excerpt

<h4>Purpose: </h4> To describe the clinical features, imaging characteristics, and genetic test results associated with a novel compound heterozygous mutation of BEST1 gene resulting in an autosomal recessive bestrophinopathy (ARB). <h4>Methods: </h4>: Two siblings underwent a complete ophthalmic examination, including dilated fundus examination, fundus photography, fundus autofluorescence imaging, spectral-domain...

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Literature Corpus work: 9b792194-6d08-521a-a04e-729deb46fd86
DOI: 10.21203/rs.3.rs-1322638/v1

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