Background: Autosomal recessive bestrophinopathy is part of the diverse spectrum of retinal diseases caused by mutations in the BEST1 gene.
Methods: A case report.
Results: We present a case that highlights the classic retinal findings of autosomal recessive bestrophinopathy with an emphasis on modern multimodal imaging.
Conclusion: We describe modern multimodal imaging in an individual with a BEST1 gene mutation and clinical findings consistent with an autosomal recessive bestrophinopathy.
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| http://dx.doi.org/10.1097/ICB.0000000000000707 | DOI Listing |
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