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Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association.

Michael F MarmorChristina Zeitz
Published in: Documenta ophthalmologica. Advances in ophthalmology (2018)
Our family's ERG showed essentially no rod response, consistent with a Danish GNAT1 pedigree but different from the Nougaret GNAT1 pedigree that shows partial preservation of rod signal. A genetic connection between CSNB and POST would be intriguing, but we found no evidence for this.
Keyphrases
  • genome wide
  • liquid chromatography
  • copy number
  • sleep quality
  • physical activity
  • depressive symptoms
  • drug induced