Clinical utility gene card for: achromatopsia

Eur J Hum Genet. 2011 Jun;19(6). doi: 10.1038/ejhg.2010.231. Epub 2011 Jan 26.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Chromatography, High Pressure Liquid
  • Color Vision Defects / congenital
  • Color Vision Defects / diagnosis*
  • Color Vision Defects / epidemiology
  • Color Vision Defects / genetics
  • Cyclic Nucleotide Phosphodiesterases, Type 6 / genetics
  • Cyclic Nucleotide-Gated Cation Channels / genetics
  • Diagnosis, Differential
  • Electroretinography
  • Eye Proteins / genetics
  • Eyeglasses
  • Gene Frequency
  • Genes, Recessive*
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Diseases, X-Linked / genetics
  • Heterotrimeric GTP-Binding Proteins / genetics
  • Humans
  • Incidence
  • Leber Congenital Amaurosis / diagnosis*
  • Leber Congenital Amaurosis / genetics
  • Mutation*
  • Predictive Value of Tests
  • Retinitis Pigmentosa / diagnosis*
  • Retinitis Pigmentosa / genetics
  • Risk Factors
  • Sequence Analysis, DNA
  • Vision Tests

Substances

  • CNGA3 protein, human
  • CNGB3 protein, human
  • Cyclic Nucleotide-Gated Cation Channels
  • Eye Proteins
  • Cyclic Nucleotide Phosphodiesterases, Type 6
  • PDE6C protein, human
  • Heterotrimeric GTP-Binding Proteins

Supplementary concepts

  • Cone dystrophy, x-linked, with tapetal-like sheen