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• RP?
• Posted: 2008-01-08 18:14:29 By Nicole D
• Hello everyone out there. I think I belong here. Back in Nov '06 my local small town eye dr. said "you are now displaying everything" I have been waiting to get into to see the local specialist. My appointment is Aug 12, 2008. Long wait eh? I am 37 on the 10th of Jan. We have RP in our family very stronly. On my fathers side, his mother had it. She had 4 kids, 2 girls, 2 boys, only the boys have it. Of my fathers kids also 4, 2 boys 2 girls, only us girls have it. Now I too have kids, 1 boy and 1 girl and only my son has it. How does this family history thing work? Does anyone know why 'our fathers have passed it to daughters only and Mothers to sons only?
  I grew up knowing I would one day have it but didn't really believe it I guess. My dad never could drive, very stubborn man won't to this day even us a cane, he'd rather rely on everyone else to help him. I grew up seeing the effects and don't know how bad my sight will get. My husband is very supportive especially since I can't drive at night anymore. Our kids 16 and 15 are great too. Our youngest does some night driving to help us all out. Here in Alberta Canada you can drive at 14! I have had to pick up some 'puffy paint' to make markings on certain clothes, having trouble with colours lately? I had corrective eye surgery on both eyes in 2000 to fix my nearsightness and vision went from -10.75 to -8.25 in one eye (left) and after 2 surgeries in the right -10.75 to -2.5. Does anyone know if this would have progressed everything?
  Am finding through what little research I can do on my own that there is not alot of help here in Canada for RPers like there is in the states, even all the clinical trials are down there, although I'd participate in a heart beat.
  Just thought I'd drop a few lines and say hello from a confussed newby...

• Re: RP?
• Posted: 2008-01-08 20:17:16 By Carol C
• Hi,Nicole! My brother has X-linked RP ( cone-rod dystophy, to be exact), and your inheritence pattern could fit that. You said your grandmother "had" it- did she go completely blind? X-linked means the gene rides on the X chromosome, which males get from their mothers, and they get symptoms because they have the same X in all their cells. Women have their mother's X in some cells, and their father's X in some cells, so carriers generally have much milder symptoms, but some may have significant problems if more of their cells got the X carrying the mutation. My mother's sister went completely blind in her 60's/70's, yet my mother died at age 69 with no known symptoms, and her mother was still very functional at 81. X-linked means the affected males always pass the gene to daughters, and never to sons, as they give them the Y chromosome, making them male. Carrier females can give the gene to males and females, 50/50 chance.It can seem to skip many generations, but it doesn't- just goes through females who don't show enough signs to detect it. The determination would likely be made as X-linked if there are no cases of a male passing it to a son, and if females were almost always mildly affected, with severely affected males. Otherwise, it's dominant transmission., 50/50 chance of any affected male or female passing it to any male or female child. My brother also has a lot of trouble with colors ( cone cells), and very limited field of vision now, and very poor night vision. Do you know your son has it by exam or symptoms? I have heard of other Canadians just skipping it at home and coming to the States due to such long waits. I guess socialized medicine is just great... until you get sick! Good news..my brother is in the CNTF study, and is experiencing improvement, so real treatment may be coming( search for"ciliary neurotrophic factor, retina" for interesting reading!) Carol

• Re: Re: RP?
• Posted: 2008-01-09 01:08:22 By Nicole D
• Thank you sooo much for all the information. And I will definately read up. Not sure what type I have, due to not seeing the Dr. yet. My son just 16 seems to be fine at everything and has no complaints but the Dr. said after a (in my opinion poor exam) that he'd have to have it.
  I have been reading up on some clinical studies and have applied for one today in Kentucky, for an implant and I am also taking vitamin A, Lutein and have added many many green and yellow veggies daily as well as fish 2 servings per week to my diet. Not sure if any of it will help but its worth trying.
  My grandmother died during child birth after my father was born but in her mid 20's had many troubles getting around from what my grandfather told us. My dad is 63 and can see about 10inches through a tunnel and not anything at all to the sides. His vision is has been very bad for many many years at least 30. He went down hill from mid 30's very fast as did his brother. My uncle was almost within 6 months! He drove, owned a pallet factory no problems to speak of then one day it just started really fast within 6 months he was not driving at all and was taking classes at the CNIB to help cope and learn to function.
  

• Re: Re: Re: RP?
• Posted: 2008-01-09 14:32:47 By Carol C
• The rapid progression is unusual, I think, but there are so many different mutations known about now, I guess anything is possible. What do you know of your grandmother's genealogy? Do you know of any extended relatives? I hope you do get into some kind of research program here, as the procedures would be free to you. Maybe not transportation, though. If this is X-linked or dominant, your son does NOT have to have it, only 50/50 chance. My brother got the gene from my mother, whose brother does not have it, and whose maternal uncle did not have it. My grandmother's cousin had 4 sons, only one got the gene. I had the DNA test, I do not have it, though my brother does. We have no males directly back with it; it was sneaky, coming down every generation through a female, from my g-g-g-grandmother. Have you read about Choroideremia? This is also X-linked, often confused for XLRP, may have a more rapid progression. This has a blood test for males, which will tell you for sure if they have it. There is a Canadian specialist in Choroideremia, in Ontario maybe?, Ian MacDonald. You could do a search for him, may be able to help you with Canadian research ideas. Carol