Novel mutations in enhanced S-cone syndrome

Ophthalmology. 2013 Feb;120(2):431.e1-6. doi: 10.1016/j.ophtha.2012.08.032.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Amino Acid Sequence
  • Electroretinography
  • Female
  • Fluorescein Angiography
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation, Missense*
  • Orphan Nuclear Receptors / chemistry
  • Orphan Nuclear Receptors / genetics*
  • Pedigree
  • Retinal Cone Photoreceptor Cells / pathology*
  • Retinal Dystrophies / diagnosis
  • Retinal Dystrophies / genetics*
  • Rod Opsins / genetics*
  • Tomography, Optical Coherence

Substances

  • NR2E3 protein, human
  • Orphan Nuclear Receptors
  • Rod Opsins
  • short-wavelength opsin