AUTOSOMAL RECESSIVE BESTROPHINOPATHY: MULTIMODAL IMAGING UPDATE

Retin Cases Brief Rep. 2018:12 Suppl 1:S51-S54. doi: 10.1097/ICB.0000000000000707.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Diagnostic Techniques, Ophthalmological
  • Eye Diseases, Hereditary / diagnostic imaging*
  • Female
  • Humans
  • Macula Lutea / diagnostic imaging
  • Multimodal Imaging*
  • Retinal Diseases / diagnostic imaging*
  • Retinal Pigment Epithelium / diagnostic imaging

Supplementary concepts

  • Bestrophinopathy