CSNB Flashcards
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)
- inheritance
2
Q
A