AUTOSOMAL RECESSIVE BESTROPHINOPATHY: MULTIMODAL IMAGING UPDATE.

Retin Cases Brief Rep

Department of Ophthalmology, California Pacific Medical Center, San Francisco, California.

Published: October 2018


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Article Abstract

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.0000000000000707DOI Listing

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