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?

Reply Flag this Discussion

2 Replies:

  • Contact your local Foundation Fighting Blindness and they can tell you where you can go and get tested. Genetic testing is quite common today.RP affects both sexes. Your grandparents were probably carriers and you may have it or you could be a carrier as well. In order for your kids to have it, your husband would also have to carry the genes involved. That is where the genetic testing comes in handy. Check the Foundation Fighting Blindness to learn more about RP. Also there is a forum for the visually impared at www.exjake.comMarisa
    Anonymous 42789 Replies
    • February 7, 2007
    • 01:15 AM
    • 0
    Flag this Response
  • Hello everyone, My name is Nayla i am 21 years old, I am from Bahrain. I have been diagnosed with RP around 10 years ago. Currently I am in my senior year in college and as part of my graduation project, I am creating an awareness campaign to let people know about the disease and what we, patients, struggle and go through on a daily basis. I want to ask you, if you may, to video tape yourself and tell me about how it is like to live with RP. The video tape will only be used for viewing and it will not be copied or distribted. In the video, I would like you to state when you were diagnosed, how did you first notice or people around you noticed you had RP, how are you coping with it, how do you explain to people about and let them know what kind of assitance you need. Talk about things like that. Please help me spread the awareness. I would be gratefull. Pass this along to anyone you believe would be interested in helping me with the campaign, people like you. :)
    Anonymous 42789 Replies Flag this Response
Thanks! A moderator will review your post and it will be live within the next 24 hours.