Novel compound heterozygous mutations resulting in cone dystrophy with supernormal rod response

JAMA Ophthalmol. 2013 Nov;131(11):1482-5. doi: 10.1001/jamaophthalmol.2013.4681.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Electroretinography
  • Fluorescein Angiography
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Ophthalmoscopy
  • Potassium Channels, Voltage-Gated / genetics*
  • Retinitis Pigmentosa / diagnosis*
  • Retinitis Pigmentosa / genetics*
  • Tomography, Optical Coherence
  • Visual Acuity
  • Visual Field Tests

Substances

  • KCNV2 protein, human
  • Potassium Channels, Voltage-Gated

Supplementary concepts

  • Retinal Cone Dystrophy 3B