CSNB Flashcards

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1
Q

what are the

common findings

and differences

between complete and incomplete CSNB

A
  • common findings
    • normal fundi
    • electronegative ERG (a>b wave)
  • DIFFERENCES:
    • inheritance
      • complete X-linked or AR
      • incomplete: x-linked only
      • so if you see an AR inheritance it must be complete
    • mutations
      • x-linked complete = NYX
      • x-linked incomplete = CANA1f (calcium channel)
    • ERG
      • on response affected only (complete
      • on & off affected (incomplete)
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2
Q
A
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