Novel mutation in BEST1 associated with retinoschisis

JAMA Ophthalmol. 2013 Jun;131(6):794-8. doi: 10.1001/jamaophthalmol.2013.2047.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Bestrophins
  • Child
  • Chloride Channels / genetics*
  • Chloride Channels / metabolism
  • DNA Mutational Analysis
  • Electrooculography
  • Electroretinography
  • Eye Proteins / genetics*
  • Eye Proteins / metabolism
  • Female
  • Fluorescein Angiography
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Mutation, Missense*
  • Phenotype
  • Retinoschisis / diagnosis
  • Retinoschisis / genetics*
  • Retinoschisis / physiopathology
  • Siblings
  • Tomography, Optical Coherence
  • Visual Acuity
  • Vitelliform Macular Dystrophy / diagnosis
  • Vitelliform Macular Dystrophy / genetics*
  • Vitelliform Macular Dystrophy / physiopathology

Substances

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