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Blind and Visually Impaired Community

Full History - 2020 - 10 - 27 - ID#jjflpj
17
Father and Brother have Retinitis Pigmentosa. I do not (so far) but curious if I can be a carrier without having RP and pass that onto to children (self.Blind)
submitted by ForeRight7
The title is pretty straight forward. I’m 28M with no eye issues other than subpar vision (contacts and glasses). I get checked yearly and mention my family’s RP history and they check for it. I’m curious if it’s possible to be given RP from my father and to be a non-symptomatic carrier. I’m worried about passing this onto a future child. I understand there are genetic testing to do but it’s quite expensive and I cannot find anything online regarding my question. Thank you
meeowth 3 points 2y ago
There are a lot of genes that can cause RP. You would have to get a genetic test to be sure, but generally men are less likely to be asymptomatic carriers due to women having an additional X chromosome to fall back on. Buuuut, since you're dad and bro have it, it may not be x-linked, though your mother could always be a carrier and not know it.
JackEsq 3 points 2y ago
Not a doctor or genetic counselor, but it depends if the gene is a dominant or recessive gene. If the gene is dominant you would not be a carrier as you do not have the faulty gene since you would be symptomatic. If the gene is recessive, you may be a carrier.

Have your father and brother had genetic testing? They may qualify for free genetic testing through the $1, which includes genetic counseling and they can ask these questions on your behalf.
Revenant624 3 points 2y ago
I am not a doctor, so I can’t answer that question. What I can tell you is that I have RP and it also is in my family history I am the youngest of three and my oldest brother has RP as well. My brothers and I all have children and thankfully none of them have shown signs of RP that does not mean they cannot pass it on to their children as far as I know.
blindchickruns 2 points 2y ago
I don't know if it's the same program that is listed in this thread but I know I was only tested after I was diagnosed. I know that the university that did the test was in Michigan. I can also proudly say that because of my mother and I having the same disease my eyes were in some sort of textbook written by a professor at the university where my mother and I were officially diagnosed.

From what I was told at a very young age, the RP gene is recessive. While you may not have any symptoms you are guaranteed to be a carrier of this disease. The fact of the matter is one of your parents, and that would be your father, only has the recessive gene to offer. Your mother however is not blind, so it is possible that you received her dominant gene and you will never actually develop this disease because you cannot due to the protection the dominant gene provides.

I'm also sure that your father and brother already know this, but because of the familial element of this disease and the fact that it presented in both your father and your brother, pretty much any university hospital within driving distance will be interested in seeing both your father and your brother and keeping track of the progression of their disease over the years. It really is a rare opportunity for them to study this family of diseases. Because of the studies your family can get perks like getting a fast track for cataract surgery for instance, because the doctors or hospital will be very interested as having a case study to provide extra funding for the University.
Real_Space_Captain 2 points 2y ago
Commented elsewhere, but My Retina Tracker does free genetic testing, but I believe it is just for diagnosed cases. That being said, maybe still talk to your doctor or the organization. Considering you have two family members with RP, they may still do the testing for you.
OrneryPathos 2 points 2y ago
Yes


https://www.envisionus.com/How-We-Help/Education-Outreach/Retinitis-Pigmentosa


https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/retinitis-pigmentosa
Ant5477 1 points 2y ago
Greetings, my name is Anthony of the talk show, third eye visions, I am doing a special on RP pretty soon, if you would like to be on the show along with others Who has R P, let me know, meanwhile, you can check out my latest video

https://youtu.be/eX6HMs1tWeU
YearsOfGlitter 1 points 2y ago
Yes. My dad has it and I am a carrier but don’t have it.
ForeRight7 [OP] 2 points 2y ago
Thank you for answering. So you being a carrier, what is the chance you pass that on to children? Assuming your wife does not have it
YearsOfGlitter 1 points 2y ago
No problem. If it’s recessive not dominant I think the chance would be zero if your wife is not a carrier. But you don’t know the answer to that without genetic testing. Edit 2: Pass on the gene to be a carrier or pass on the disease?
ForeRight7 [OP] 1 points 2y ago
Pass on the gene of the disease. Knowing I could have a child with that disease certainly makes you think about having them.
YearsOfGlitter 2 points 2y ago
Yes I believe you could pass on the gene whether it’s dominant or recessive. But you mean pass it on to them as a carrier or pass it on as then having the disease? Not a genetic counselor here, so you definitely should use the service mentioned (forgot name) in this thread. Also a regular eye doctor should be able to answer questions about this for you as well. I don’t feel upset about being a carrier personally, so that shouldn’t hold you back. While I didn’t have children, both my siblings did and all their kids are fine and well. My dad was blind by mid life, but he was a great father and I learned a lot from him. X
luannspirate 1 points 2y ago
Did you get a genetic test or are you asymptomatic?
YearsOfGlitter 2 points 2y ago
Another direct family member got the genetic test. It’s a type that would have necessitated that my mother be a carrier too, which she is not (autosomal recessive).
luannspirate 1 points 2y ago
I'm in a similar position - does anyone know of a way for the child of someone with RP to get genetic testing for the disease? Willing to pay out of pocket.
Real_Space_Captain 3 points 2y ago
Talk to your parent's eye doctor to see if you can get a referral to geneticists. I (have RP) got a genetic test done completely paid for by an organization, and if I recall right they said they could also test immediate family members.

I'll also try to remember the name of the organization.

EDIT: Ah, it is My Retina Tracker, but it seems I was wrong and they don't do it for family members. But maybe still reach out, maybe they will! Who knows!
luannspirate 1 points 2y ago
Great, thanks so much!
AchooCashew 1 points 2y ago
Yes.
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