A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5)

Adv Exp Med Biol. 2012:723:595-601. doi: 10.1007/978-1-4614-0631-0_76.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Chromosomes, Human, X / genetics
  • Color Vision Defects / genetics*
  • Color Vision Defects / pathology
  • Family Health
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense / genetics*
  • Phenotype
  • Retinal Cone Photoreceptor Cells / pathology
  • Retinal Dystrophies / genetics*
  • Retinal Dystrophies / pathology
  • Rod Opsins / genetics*
  • Young Adult

Substances

  • Rod Opsins
  • long-wavelength opsin
  • middle-wavelength opsin