A novel mutation of BEST1 gene in Best disease

Eur J Ophthalmol. 2021 May;31(3):NP93-NP95. doi: 10.1177/1120672120920536. Epub 2020 Apr 22.

Abstract

Purpose: To describe a new genetic variation of BEST1 gene in Best vitelliform macular dystrophy.

Methods: A patient with bilateral multiple retinal yellowish lesions at the posterior pole underwent fluorescein angiography, fundus autofluorescence, optical coherence tomography, electrooculogram and blood sample for genetic testing.

Results: A diagnosis of a Best vitelliform macular dystrophy was made. Heterozygous mutation c.76G > A (p.Gly26Ser) in exon 2 of the BEST1 gene was found.

Conclusion: These findings contribute to expand the mutation spectrum of BEST1 gene.

Keywords: Best vitelliform macular dystrophy; genetic testing; maculopathy; retina.

Publication types

  • Case Reports

MeSH terms

  • Bestrophins / genetics
  • Chloride Channels / genetics
  • Electrooculography
  • Eye Proteins / genetics
  • Fluorescein Angiography
  • Humans
  • Mutation
  • Tomography, Optical Coherence
  • Vitelliform Macular Dystrophy* / diagnosis
  • Vitelliform Macular Dystrophy* / genetics

Substances

  • BEST1 protein, human
  • Bestrophins
  • Chloride Channels
  • Eye Proteins