1 Rhodopsin Mutations in Congenital Night Blindness

  • Suzanne D. McAlear
  • Timothy W. Kraft
  • Alecia K. Gross
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 664)


While there are over 100 distinct mutations in the rhodopsin gene that are found in patients with the degenerative disease autosomal dominant retinitis pigmentosa (ADRP), there are only four known mutations in the rhodopsin gene found in patients with the dysfunction congenital stationary night blindness (CSNB). CSNB patients have a much less severe phenotype than those with ADRP; the patients only lose rod function which affects their vision under dim light conditions, whereas their cone function remains relatively unchanged. The known rhodopsin CSNB mutations are found clustered around the site of retinal attachment. Two of the mutations encode replacements of neutral amino acids with negatively charged ones (A292E and G90D), and the remaining two are neutral amino acid replacements (T94I and A295V). All four of these mutations have been shown to constitutively activate the apoprotein in vitro. The mechanisms by which these mutations lead to night blindness are still not known with certainty, and remain the subject of some controversy. The dominant nature of these genetic defects, as well as the relative normalcy of vision in individuals with half the complement of wild type rhodopsin, suggest that it is an active property of the mutant opsin proteins that leads to defective rod vision rather than a loss of some needed function. Herein, we review the known biochemical and electrophysiological data for the four known rhodopsin mutations found in patients with CSNB.


Night Blindness Thermal Isomerization Rhodopsin Gene Phototransduction Cascade Congenital Stationary Night Blindness 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



The authors thank T.G. Wensel and V.E. Wotring for critical comments on this manuscript. Our research is supported by grants from the EyeSight Foundation of Alabama, the Karl Kirchgessner Foundation, and by NIH grant EY019311.


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Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Suzanne D. McAlear
    • 1
  • Timothy W. Kraft
    • 1
  • Alecia K. Gross
    • 1
  1. 1.University of Alabama at BirminghamBirminghamUSA

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