Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans

Ophthalmology. 2016 Mar;123(3):668-71.e2. doi: 10.1016/j.ophtha.2015.09.045. Epub 2015 Nov 7.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Calcium Channels, L-Type / genetics*
  • Codon, Nonsense*
  • Color Vision Defects / genetics
  • DNA Mutational Analysis
  • Electroretinography
  • Female
  • Genome-Wide Association Study
  • Genotyping Techniques
  • Humans
  • Optical Imaging
  • Pedigree
  • Retinal Cone Photoreceptor Cells / pathology
  • Retinal Dystrophies / diagnosis
  • Retinal Dystrophies / genetics*
  • Retinal Dystrophies / physiopathology
  • Tomography, Optical Coherence
  • Young Adult

Substances

  • CACNA2D4 protein, human
  • Calcium Channels, L-Type
  • Codon, Nonsense