Discussions By Condition: Eye conditions

Retinitis Pigmentosa and genetics

Posted In: Eye conditions 2 Replies
  • Posted By: Anonymous
  • October 20, 2006
  • 01:30 AM


I have a history of RP in my family. Both my uncles and my mother have the disease. However, my grandparents showed no sign. Obviously it is a recessive trait and most likely "autosomal recessive". But since it switched sexes, going from my uncles to my mother, could this mean it is "Digenic"? I am 34 and so far have not shown any signs of RP. How can I get tested to find out if I have the mutant genes? I'm trying to find a good genetic counselor in the Philly area, but I'm having trouble. I just don't want to pass anything on to my future kids.
Any advice?

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