A novel homozygous BEST1 mutation correlates with complex ocular phenotypes

Ophthalmology. 2013 Jul;120(7):1511-2.e2. doi: 10.1016/j.ophtha.2013.03.043.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Bestrophins
  • Cataract / genetics*
  • Cataract / pathology
  • Chloride Channels / genetics*
  • Consanguinity
  • Eye Proteins / genetics*
  • Female
  • Glaucoma, Angle-Closure / genetics*
  • Glaucoma, Angle-Closure / pathology
  • Gonioscopy
  • Humans
  • Hyperopia / genetics*
  • Hyperopia / pathology
  • Intraocular Pressure
  • Male
  • Middle Aged
  • Mutation*
  • Pedigree
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Tomography, Optical Coherence
  • Visual Acuity / physiology
  • Vitelliform Macular Dystrophy / diagnosis
  • Vitelliform Macular Dystrophy / genetics*

Substances

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